Unmasking a Masquerade of Ocular Dysgenesis

A 66-year-old man had nebulomacular corneal opacities, iris atrophy, and corectopia along with coarse facial skin, resorbed digits, anesthetic patches, and healed trophic skin ulcers. What would you do next?

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Publication Details

Journal
JAMA Ophthalmology
Published
2026-01-08
DOI
https://doi.org/10.1001/jamaophthalmol.2025.5587
Primary Topic
Genetic and rare skin diseases.
Type
article
Field-Weighted Citation Impact
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article

Unmasking a Masquerade of Ocular Dysgenesis

V. Gupta, Nishtha Singh
JAMA Ophthalmology
Genetic and rare skin diseases.
article

Unmasking a Masquerade of Ocular Dysgenesis

V. Gupta, Nishtha Singh
article en

Abstract

A 66-year-old man had nebulomacular corneal opacities, iris atrophy, and corectopia along with coarse facial skin, resorbed digits, anesthetic patches, and healed trophic skin ulcers. What would you do next?

JAMA OphthalmologyVol. 144(2)
All India Institute of Medical Sciences (IN)
Zero hunger
Openalex Percentile: Top 93%
Genetic and rare skin diseases.
DOISourceOpenAlex
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Unmasking a Masquerade of Ocular Dysgenesis — V. Gupta, Nishtha Singh · JAMA Ophthalmology (2026) | TGRS Research Map | TGRS