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Article

Hypotrichosis with Juvenile Macular Dystrophy in a Patient with Cadherin 3 (CDH3) Mutation.

Nepalese journal of ophthalmology : a biannual peer-reviewed academic journal of the Nepal Ophthalmic Society : NEPJOPH - 1 Jan 2022

Rishi Ekta, Goel Sugandha, Bassi Shikha, Rishi Pukhraj

Abstract excerpt

INTRODUCTION: Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disease with progressive macular degeneration leading to blindness in the first three decades of life along with hypotrichosis. CASE: We herein report a case of a five year old boy with hypotrichosis with juvenile macular dystrophy diagnosed with multi-modal imaging which was later confirmed by genetic testing by whole...

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PMID: 35996915
DOI: 10.3126/nepjoph.v14i1.37258

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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