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International Ophthalmology
Published in: International Ophthalmology 3/2018

01-06-2018 | Original Paper

Clinical and genetic analysis of Indian patients with NDP-related retinopathies

Authors: Dhandayuthapani Sudha, Aparna Ganapathy, Puja Mohan, Ashraf U. Mannan, Shuba Krishna, Srividya Neriyanuri, Meenakshi Swaminathan, Pukhraj Rishi, Subbulakshmi Chidambaram, Jayamuruga Pandian Arunachalam

Published in: International Ophthalmology | Issue 3/2018

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Abstract

Purpose

NDP-related retinopathies are a group of X-linked disorders characterized by degenerative and proliferative changes of the neuroretina, occasionally accompanied with varying degrees of mental retardation and sensorineural hearing loss. NDP is the predominant gene associated with NDP-related retinopathies. The purpose of this study was to report the clinical and genetic findings in three unrelated patients diagnosed with NDP-related retinopathies.

Methods

The patients underwent complete ophthalmic examination followed by genetic analyses. NDP gene was screened by direct sequencing approach. Targeted resequencing of several other ocular genes was carried out in patient samples that either indicated NDP gene deletion or tested negative for NDP mutation. Gene quantitation analysis was performed using real-time PCR.

Results

The whole NDP gene was deleted in patient I, while a missense NDP mutation, c.205T>C, was identified in patient II, and both had classical Norrie disease ocular phenotype (with no other systemic defects). Patient III who was diagnosed with familial exudative vitreoretinopathy did not show any mutation in the known candidate genes as well as in other ocular genes tested.

Conclusions

The patient with whole NDP gene deletion did not exhibit any apparent extraocular defects (like mental retardation or sensorineural hearing loss) during his first decade of life, and this is considered to be a notable finding. Our study also provides evidence emphasizing the need for genetic testing which could eliminate ambiguities in clinical diagnosis and detect carrier status, thereby aiding the patient and family members during genetic counseling.
Appendix
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Metadata
Title
Clinical and genetic analysis of Indian patients with NDP-related retinopathies
Authors
Dhandayuthapani Sudha
Aparna Ganapathy
Puja Mohan
Ashraf U. Mannan
Shuba Krishna
Srividya Neriyanuri
Meenakshi Swaminathan
Pukhraj Rishi
Subbulakshmi Chidambaram
Jayamuruga Pandian Arunachalam
Publication date
01-06-2018
Publisher
Springer Netherlands
Published in
International Ophthalmology / Issue 3/2018
Print ISSN: 0165-5701
Electronic ISSN: 1573-2630
DOI
https://doi.org/10.1007/s10792-017-0589-0

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