Nance Horan syndrome: a multidisciplinary approach

Learning point for cliniciansCataracts can be familial or syndromic.Early detection during fetal scan should prompt referral to an ophthalmologist.Examination of parents should be mandatory, as in our case, where we got a clue to the diagnosis of Nance Horan Syndrome and confirmed it by molecular testing.This syndrome can have a bearing on the intellect of the child and future progeny.Parents can be accordingly counseled and told for early examination of the child so that surgery is performed within the critical period to prevent amblyopia.

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Publication Details

Journal
QJM
Published
2026-03-04
DOI
https://doi.org/10.1093/qjmed/hcag069
Primary Topic
Mitochondrial Function and Pathology
Type
article
Field-Weighted Citation Impact
0.00
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article

Nance Horan syndrome: a multidisciplinary approach

Harpreet Kour Isher, Ravneet Bhatia, Jaspreet Sukhija
QJM
Mitochondrial Function and Pathology
article

Nance Horan syndrome: a multidisciplinary approach

Harpreet Kour Isher, Ravneet Bhatia, Jaspreet Sukhija
article en

Abstract

Learning point for cliniciansCataracts can be familial or syndromic.Early detection during fetal scan should prompt referral to an ophthalmologist.Examination of parents should be mandatory, as in our case, where we got a clue to the diagnosis of Nance Horan Syndrome and confirmed it by molecular testing.This syndrome can have a bearing on the intellect of the child and future progeny.Parents can be accordingly counseled and told for early examination of the child so that surgery is performed within the critical period to prevent amblyopia.

QJM
Mother Hospital (IN), Post Graduate Institute of Medical Education and Research (IN)
Openalex Percentile: Top 7%
Mitochondrial Function and Pathology
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