Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening ofBEST1andPRPH2

Abstract

A case series of patients is reported with an unusual unilateral vitelliform phenotype, often associated with good visual function. The patients do not have the typical characteristics associated with age-related maculopathy or any inherited macular disorders, such as Best vitelliform macular dystrophy. Molecular screening of the candidate genes BEST1 and PRPH2 revealed no mutations.

IMPG2-associated unilateral adult onset vitelliform macular dystrophy

“…Unilateral AVMD has been previously reported in patients harbouring BEST1 variants, and in patients negative for BEST1 and PRPH2 variants. 6 The previously reported patients overall had good prognosis, and our reported patient retained good BCVA over 10 years, with the right eye remaining unaffected. Unilateral AVMD is a rare presentation, and, to our knowledge, this is the first case associated with an IMPG2 variant.…”

“… 3 In rare instances unilateral cases of AVMD have been described, either associated with BEST1 variants, 4 , 5 or with negative genetic testing for PRPH2 and BEST1 . 6 No case of unilateral disease has been described in association with PRPH2 , IMPG1 or IMPG2 variants.…”

Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy

“…The clinical manifestation of BVMD varies substantially in different disease stages and among individual patients ( 4 ). For example, retinal lesions in BVMD typically occur bilaterally and symmetrically; however, rarely, patients can exhibit unilateral maculopathy ( 5 , 6 ). Patients with atypical BVMD presentation can have multifocal macular and extramacular involvement, including retinitis pigmentosa, microcornea, retinal dystrophy, cataract, and posterior staphyloma syndrome ( 6 – 13 ).…”

“…For example, retinal lesions in BVMD typically occur bilaterally and symmetrically; however, rarely, patients can exhibit unilateral maculopathy ( 5 , 6 ). Patients with atypical BVMD presentation can have multifocal macular and extramacular involvement, including retinitis pigmentosa, microcornea, retinal dystrophy, cataract, and posterior staphyloma syndrome ( 6 – 13 ). Macular degeneration in BVMD can begin from childhood or adulthood, and is classified as juvenile-onset BVMD or adult-onset BVMD, respectively ( 14 ).…”