Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants
Emily S. Levine, Nidhi D. Shah, Erin M. Salcone
TL;DR
A 10-month-old child with compound USH2A gene variants was found to have an optic nerve coloboma, a first in nonsyndromic retinitis pigmentosa cases.
Contribution
This is the first reported case linking optic nerve coloboma with USH2A-related nonsyndromic retinitis pigmentosa.
Findings
The child had compound heterozygous USH2A variants and optic nerve coloboma.
No other dysmorphic features or ocular anomalies were present.
This case expands the phenotypic spectrum of USH2A-related disorders.
Abstract
We present a case of an optic nerve coloboma in a 10-month-old girl found to have compound heterozygous USH2A variants. There were no other dysmorphic features or ocular developmental anomalies. To our knowledge, this is the first report in literature of a concomitant optic nerve coloboma in a case of nonsyndromic retinitis pigmentosa related to USH2A variants.
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Taxonomy
TopicsRetinal and Macular Surgery · Intraocular Surgery and Lenses · Ophthalmology and Eye Disorders