RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY

Summary

The Veteran served on active duty from June 2006 to January 2016 and passed away in June 2025. His surviving spouse appealed the denial of service connection for bilateral vasculopathy, a rare genetic disease known as Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL). The Board reviewed evidence from VA examinations and private medical opinions. A May 2021 VA examination diagnosed bilateral vasculopathy, but the examiner opined it was less likely than not related to service, attributing it to a genetic defect. However, other evidence, including a May 2021 VA examination and opinions from private providers Dr. S.W. and Dr. J.M., suggested a connection. Dr. S.W. noted the Veteran had abnormal protein in his urine as early as 2008, indicating the chronic kidney disease component of RVCL was present in service. Private provider Dr. J.M. stated that RVCL causes severe disability and premature death, and that the Veteran's condition was already advanced and disabling. The Board found these opinions equally probative. Resolving all doubt in the appellant's favor, the Board found that the Veteran's bilateral vasculopathy was incurred during active service, granting service connection. The Board noted that while RVCL is genetic, service connection can be granted for hereditary diseases that first manifested during service, and the Veteran's condition was first detected during service bloodwork.

Rationale

Resolving all doubt in the appellant's favor.; RVCL, a genetic disease, first manifested during service.; Initial findings during service bloodwork indicated the condition's presence.

Full Decision Text

Citation Nr: A26037765
Decision Date: 04/22/26	Archive Date: 04/22/26

DOCKET NO. 250126-552102
DATE: April 22, 2026

ORDER

Service connection for bilateral vasculopathy, diagnosed as retinal vasculopathy with cerebral leukoencephalopathy (RVCL), and previously claimed as retinopathy, is granted.

FINDING OF FACT

Resolving all doubt in favor of the appellant, the Veteran's bilateral vasculopathy disease had its onset during service. 

CONCLUSION OF LAW

The criteria for service connection for bilateral vasculopathy have been met. 38 U.S.C. §§ 1110, 5107; 38 C.F.R. §§ 3.102, 3.303, 4.9.

REASONS AND BASES FOR FINDING AND CONCLUSION

The Veteran served on active duty from June 2006 to January 2016. He died in June 2025, and the appellant is his surviving spouse who was accepted as a substitute claimant for the purpose of processing this appeal to its completion.  

This matter comes before the Board of Veterans' Appeals (Board) on appeal from a decision issued in December 2024 by a Department of Veterans Affairs (VA) Regional Office (RO) under the modernized appeals system known as the Appeals Modernization Act (AMA). 

As a matter of background, in June 2021, an Agency of Original Jurisdiction (AOJ) initially denied service connection for bilateral vasculopathy. Thereafter, in November 2024, VA received the Veteran's Decision Review Request: Supplemental Claim (VA Form 20-0995) for the Veteran's claim for service connection for bilateral vasculopathy. In the December 2024 rating decision on appeal, the AOJ confirmed and continued the denial of service connection for bilateral vasculopathy. 

In January 2025, the Veteran timely appealed such decision by filing a Decision Review Request: Board Appeal (Notice of Disagreement) (VA Form 10182) and requested direct review of the evidence considered by the AOJ. Thus, the Board's review is limited to the evidence of record at the time of issuance of the December 2024 rating decision on appeal. 38 C.F.R. § 20.301.

Thus, the Board cannot consider evidence submitted subsequent to such rating decision. Id. If evidence was associated with the claims file during a period of time when additional evidence was not allowed, the Board has not considered it in this decision. 38 C.F.R. § 20.300. If the appellant would like VA to consider any evidence that was added to the claims file that the Board could not consider, she may file a Supplemental Claim (VA Form 20-0995) and submit or identify this evidence.  38 C.F.R. § 3.2501. If the evidence is new and relevant, VA will issue another decision on the claim, considering the new evidence in addition to the evidence previously considered. Id. Specific instructions for filing a Supplemental Claim are included with this decision.

Entitlement to service connection for bilateral vasculopathy.

Service connection may be granted for a disability resulting from disease or injury incurred in or aggravated by service. 38 U.S.C. § 1110; 38 C.F.R. § 3.303(a). Service connection may also be granted for any disease diagnosed after discharge, when all of the evidence, including that pertinent to service, establishes that the disease was incurred in service. 38 C.F.R. § 3.303(d). Direct service connection may not be granted without evidence of a current disability; in-service incurrence or aggravation of a disease or injury; and a nexus between the claimed in-service disease or injury and the present disease or injury. Id.; see also Caluza v. Brown, 7 Vet. App. 498, 506 (1995) aff'd, 78 F.3d 604 (Fed. Cir. 1996).

As an initial matter, in a December 2024 rating decision, an AOJ favorably found that the Veteran has been diagnosed with a disability. In this regard, the AOJ noted that a May 2021 VA examination reflects a diagnosis of bilateral vasculopathy. Further, as reflected in the December 2024 rating decision, participation in a toxic exposure risk activity (TERA) is conceded. In particular, the Department of Defense (DoD) has provided VA with authoritative data that verifies the Veteran has military service that constitutes presumptive toxic exposure per 38 U.S.C. §1119. The Board is bound by such favorable findings. 38 C.F.R. § 3.104(c).

Turning to the evidence, per an
 initial matter, in a December 2024 rating decision, an AOJ favorably found that the Veteran has been diagnosed with a disability. In this regard, the AOJ noted that a May 2021 VA examination reflects a diagnosis of bilateral vasculopathy. Further, as reflected in the December 2024 rating decision, participation in a toxic exposure risk activity (TERA) is conceded. In particular, the Department of Defense (DoD) has provided VA with authoritative data that verifies the Veteran has military service that constitutes presumptive toxic exposure per 38 U.S.C. §1119. The Board is bound by such favorable findings. 38 C.F.R. § 3.104(c).

Turning to the evidence, per an October 2015 Eye Conditions Disability Benefits Questionnaire (DBQ), upon in-person examination, the Veteran had a diagnosis of bilateral keratoconjunctivitis sicca from 2009. Under medical history, the examiner documented the onset of bilateral dry eye syndrome as June 2009. In particular, the Veteran stated the Veteran's bilateral eye syndrome began in Iraq. According to an October 2015 Kidney Conditions (Nephrology) DBQ, the Veteran had diagnoses of proteinuria and trace hematuria.  

Further, per a November 2015 post-service treatment record, the Veteran had a provisional diagnosis of unspecified retinal disorder, with the examiner noting possible Central Serous Chorioretinopathy (CSCR), dull Foveolar Reflex (FOR)3 with a few trace microaneurysms (MA) and referred the Veteran to ophthalmology. In September 2016, VA received the Veteran's medical records from June 1983 to January 2016, which consistently include records reflecting that the Veteran had active problems of myofascial pain syndrome, bilateral dry eye syndrome, refractive error, and astigmatism.  

In a November 2018 statement, Dr. S.W. stated that he had been treating the Veteran for chronic kidney disease since September 2016. As reflected in this statement, the Veteran underwent a kidney biopsy in September 2017, which demonstrated membranoproliferative glomerulonephritis. According to Dr. S.W., he reviewed the Veteran's medical records dating back to 2006, and he noted that laboratory testing in August 2008 demonstrated increased protein in his urine. Dr. S.W. further noted that this was confirmed on follow-up urine assessments. Dr. S.W. opined that the Veteran's chronic kidney disease secondary to membranoproliferative glomerulonephritis, for which he was treating him, was present as early as 2008, based on the abnormal presence of protein in the Veteran's urine at that time. 

 In April 2021, the Veteran filed a claim for, in relevant part, retinopathy, claiming that his vision issues began in 2015 during active duty. In a June 2021 rating decision, an AOJ denied service connection for bilateral vasculopathy (claimed as retinopathy), finding that neither occurred in nor was caused by service.  

In May 2021, the Veteran was afforded a VA examination related to his eye conditions. Per a May 2021 Eye Condition DBQ, the Veteran's diagnoses included bilateral vasculopathy secondary to TREX 1 mutation of the bilateral eyes and bilateral dry eyes syndrome. At that time, the Veteran reported the onset of retinopathy from 2015, however indicated he did not have it checked to confirm that letters were missing from his visual acuity. The May 2021 VA examiner remarked that the Veteran most likely has retinal vasculopathy with cerebral leukoencephalopathy with systemic manifestations. Per the May 2021 VA examiner, the Veteran had more abnormalities in one eye (left) than in the other, but it was caused by his genetic defect. Also, per the examiner, dry eyes are a separate entity. Further, the examiner described that the genetic defect the Veteran had caused problems in the eyes, liver, kidney, and brain. Per the examiner, the Veteran had increased tear break up time in each eye due to dry eye, and the history of myopia and bilateral astigmatism were refractive errors and did not warrant diagnoses.

In a corresponding May 2021 Medical Opinion DBQ, a VA examiner opined that the claimed eye condition was at least as likely as not incurred in or caused by the claimed in-service injury, event, or illness. However, the examiner also opined that the claimed eye condition was less likely than not incurred in or caused by the claimed in-service injury, event, or illness. In support of such determination, the examiner noted the Veteran's report that on examination in service, he had trouble seeing several letters in his left eye; however, testing in November 2015 noted he
 break up time in each eye due to dry eye, and the history of myopia and bilateral astigmatism were refractive errors and did not warrant diagnoses.

In a corresponding May 2021 Medical Opinion DBQ, a VA examiner opined that the claimed eye condition was at least as likely as not incurred in or caused by the claimed in-service injury, event, or illness. However, the examiner also opined that the claimed eye condition was less likely than not incurred in or caused by the claimed in-service injury, event, or illness. In support of such determination, the examiner noted the Veteran's report that on examination in service, he had trouble seeing several letters in his left eye; however, testing in November 2015 noted he was able to see 20/20 in each eye. Per the examiner, this was done several times but on his manifest refraction he was 20/20 in each eye with no afferent pupillary defect present. Also, per the May 2021 VA examiner, it was discovered that the Veteran had a rare syndrome where there was a defect of TREX 1 protein that resulted in the Veteran's ocular, cerebral, liver, and retinal findings. According to the medical opinion, this was a genetic error and did not appear to be related to anything else. Moreover, per the examiner, the Veteran had several siblings who also may have had the same genetic defect. The May 2021 VA examiner opined there was not enough evidence to link the current retinal vasculopathy to the retinal disorder during service. Further, the examiner opined that the retinal vasculopathy was less likely than not due to service. In particular, the examiner noted a March 2014 service treatment record showing dry eye. Per the examiner, the dry eye is the condition that was at least as likely as not incurred in service.

As reflected in a May 2021 Kidney Conditions (Nephrology) DBQ, the Veteran had diagnoses of glomerulonephritis and chronic renal disease. In addressing medical history, the onset of such condition was in 2010 with abnormal kidney and liver functions as well as proteinuria incidentally found in laboratory work done for hypertension. In a May 2021 Medical Opinion DBQ, the examiner stated the claimed condition was at least as likely as not incurred in or caused by the claimed in-service injury, event, or illness. As a rationale, the examiner documented that the Veteran had recently been diagnosed with a TREX1 gene mutation believed by specialist to be causing a retinal vasculopathy with cerebral leukodystrophy, as well as membranoproliferative glomerulonephritis, and abnormal liver function. Per the examiner, this condition was incidentally found in-service when the Veteran had blood work done to assess cause of significant hypertension in a young male. The examiner also stated that the Veteran's most recent complete blood count (CBC) reflected worsening of his anemia with a slight macrocytosis, and he had been pancytopenic for years since diagnosis. Thus, per the examiner, a nexus opinion could be made that the current macrocytic anemia was at least as likely as not (50 percent or greater probability) incurred in or caused by the active-duty condition onset during service.

Also, per a May 2021 Hematologic and Lymphatic Conditions, Including Leukemia DBQ, the Veteran's diagnoses included anemia and macrocytic anemia, pancytopenia, and thrombocytopenia. Moreover, a May 2021 Hepatitis, Cirrhosis and Other Liver Conditions DBQ, upon in-person examination and records review, reflected that the Veteran had a diagnosis of rectal bleeding to include non-cirrhotic portal fibrosis.   

In an opinion, dated September 2024, private provider Dr. J.M., documented that the Veteran was his patient and that he was diagnosed with a rare genetic disease called Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL), an inherited disease for which there is no known treatment or cure. The provider described that, after onset of disease, RVCL patients live no more than 5 or 10 years. Dr. J.M. stated the Veteran's disease was already advanced. According to the provider, RVCL causes disabling, severe fatigue, kidney damage, liver damage, as well as blindness, disability, and premature death in 100 percent of cases. Dr. J.M. noted that the Veteran already had vision loss, cognitive dysfunction including memory problems, severe generalized fatigue related to RVCL, and brain lesions that make the Veteran unable to work competitively. Per Dr. J.M., this indicated that his disease had already progressed well beyond onset. The provider stated the Veteran had numerous brain lesions and brain atrophy, which were mentioned in magnetic resonance
 that, after onset of disease, RVCL patients live no more than 5 or 10 years. Dr. J.M. stated the Veteran's disease was already advanced. According to the provider, RVCL causes disabling, severe fatigue, kidney damage, liver damage, as well as blindness, disability, and premature death in 100 percent of cases. Dr. J.M. noted that the Veteran already had vision loss, cognitive dysfunction including memory problems, severe generalized fatigue related to RVCL, and brain lesions that make the Veteran unable to work competitively. Per Dr. J.M., this indicated that his disease had already progressed well beyond onset. The provider stated the Veteran had numerous brain lesions and brain atrophy, which were mentioned in magnetic resonance imaging (MRI) reports. Dr. J.M. also stated that he had never seen a patient with the disease who was not completely and totally disabled, and remarked that most end up unable to walk, blind, with severe dementia, and require assistance with simple daily activities. Further, according to Dr. J.M., there is no effective treatment, and the condition does not improve. Per the provider, the Veteran had widespread, large brain lesions occupying much of the white matter. As reflected in Dr.  J.M.'s statement, the Veteran's disease was already severely progressed, and he could not ambulate.

In addition, per the examiner, the Veteran had historically been seen by him and other physicians about once every 6 months. Dr. J.M. communicated that he was convinced that the Veteran could not work competitively. In this regard, per Dr. J.M., RVCL causes blindness, dementia, forgetfulness, and brain atrophy in 100 percent of the cases. According to the provider, RVCL patients rapidly become dependent on others. Per the provider, the Veteran's brain was already atrophic and damaged by the disease. Dr. J.M. opined if there were ever a case to strongly support an assessment of disability, it would be in an RVCL patient (with a confirmed, disease-causing TREX1 gene mutation) where that patient already has brain lesions, is developing new brain lesions, has chronic weakness, progressive dementia, and vision loss. 

In December 2024 post-service treatment records, a provider documented the diagnosis of retinal vasculopathy cerebral leukoencephalopathy. Also, in December 2024, the provider stated that Veteran had vision loss 2/2 retinal vasculopathy, chronic kidney disease (CKD) 2/2 membranoproliferative glomerulonephritis (GN), liver disease 2/2 liver hyperplasia, and anemia/thrombocytopenia. Moreover, per a December 2024 post-service treatment record, a provider documented the Veteran had an increasing burden of t2-hyperintense lesions on his brain MRIs (most recent ones not in their system, but the Veteran brought the report to his last clinic visit) 2/2 TREX1 gene mutation thought to be causing peripheral vasculopathy. Further, according to the examiner, the Veteran had a history of bilateral retinal vasculopathy, CKD 2/2 MPGN, liver hyperplasia, bicytopenia, with pathologic TREXI gene mutation who was referred to Infectious Disease due to indeterminate quantiferon. The provider indicated the Veteran had three recent hospitalizations that year for rapid decline in his neurologic function, given intravenous steroids and was put on long term oral corticosteroids (PO) steroids (prednisone 40 mg daily) with plans to initiate Janus Kinase (JAK) inhibitor (ruxolitinib) for long term treatment.

In March 2026, the appellant's representative acknowledged that congenital or developmental defects are not considered "diseases or injuries" within the meaning of applicable legislation regarding entitlement to service connection and, hence, do not constitute disabilities for VA compensation purposes. See 38 C.F.R. 

§§ 3.303(c), 4.9; O'Bryan v. McDonald, 771 F.3d 1376, 1380 (Fed. Cir. 2014); Quirin v. Shinseki, 22 Vet. App. 390, 395 (2009). However, the representative noted that only congenital "defects," as opposed to congenital "diseases," are excluded from the types of disabilities that may be service connected. O'Bryan, 77 F.3d at 1380; VAOPGCPREC 82-90 (July 18, 1990) (holding that "service connection may be granted for diseases (but not defects) of congenital, developmental or familial origin"). The representative contended that the sole fact that a disorder is congenital or hereditary
6, 1380 (Fed. Cir. 2014); Quirin v. Shinseki, 22 Vet. App. 390, 395 (2009). However, the representative noted that only congenital "defects," as opposed to congenital "diseases," are excluded from the types of disabilities that may be service connected. O'Bryan, 77 F.3d at 1380; VAOPGCPREC 82-90 (July 18, 1990) (holding that "service connection may be granted for diseases (but not defects) of congenital, developmental or familial origin"). The representative contended that the sole fact that a disorder is congenital or hereditary in origin does not preclude service connection. See O'Bryan, 771 F.3d at 1380; Quirin, 22 Vet. App. at 395; VAOPGCPREC 67-90 (July 18, 1990) (noting that diseases of hereditary origin can be incurred or aggravated in service if their symptomatology did not manifest itself until after entry on duty). 

In this regard, the representative noted, per the Veteran's service treatment records, as well as his August 2017 and May 2021 VA examinations, that while on active duty, the Veteran's bloodwork revealed pancytopenia and thrombocytopenia, as well as chronic kidney disease and a liver disorder, but the cause was unknown at the time. Per the Veteran's representative, in referencing VA examinations from August 2017 and May 2021, the Veteran was finally diagnosed in 2021 with a TREX 1 gene mutation, which specialists believed to be the cause of his RVCL, as well as membranoproliferative glomerulonephritis, chronic kidney disease, abnormal liver function, and macrocytic anemia. 

The appellant's representative argued that, despite the eventual RVCL diagnosis occurring five years after the Veteran separated from service, his disease was not noted on his entrance examination and was first found during bloodwork taken during active duty.  As such, the appellant's representative argued that service connection for the Veteran's RVCL is warranted. 

Moreover, according to the appellant's representative, while the May 2021 VA examiner provided a negative opinion for the Veteran's retinal vasculopathy based on its "genetic" nature, as noted above, service connection may be granted for hereditary or genetic diseases that first manifested during service. Per the appellant's representative, as the Veteran's RVCL, a genetic disease, first manifested in service, service connection is warranted. 38 U.S.C. § 5107(b).

In this regard, the Board notes that Dr. S.W. opined that the Veteran's chronic kidney disease secondary to membranoproliferative glomerulonephritis, for which he was treating him, was present as early as 2008, based on the abnormal presence of protein in the Veteran's urine at that time. Further, regarding the nature of the Veteran's disability, the Board notes, per Dr. J.M., the Veteran's diagnosis was RVCL, a rare genetic disease. In addition, the Board acknowledges, per the Veteran's medical records from June 1983 to January 2016, that the Veteran had active problems of myofascial pain syndrome, bilateral dry eye syndrome, refractive error, and astigmatism while in-service.  

As the May 2021 and June 2021 VA examiners, and Dr. S.W. and Dr. J.M., are all medical professionals with the appropriate expertise to address the etiology of bilateral vasculopathy, considered the evidence of record, and provided a rationale for their conclusions, the Board finds that such opinions are entitled to equal probative weight. Consequently, the Board resolves all doubt in the appellant's favor and finds that the Veteran's bilateral vasculopathy was incurred during active service. Thus, service connection for such disability is warranted. 38 U.S.C. 

§ 5107; 38 C.F.R. § 3.102. 

 

A. Dean

Acting Veterans Law Judge

Board of Veterans' Appeals

Attorney for the Board	Spielmann, Jill F.

The Board's decision in this case is binding only with respect to the instant matter decided. This decision is not precedential and does not establish VA policies or interpretations of general applicability. 38 C.F.R. § 20.1303.