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The Retinoblastoma Gene

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Updated: Mar 19, 2026

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

Published on: August 24, 2018

Unilateral BEST1-Associated Retinopathy.

Rashi Arora¹, Kamron Khan², Melissa L Kasilian²

¹Moorfields Eye Hospital, London, United Kingdom; Salisbury District Hospital, Salisbury, United Kingdom.

American Journal of Ophthalmology

|June 12, 2016

Summary

This summary is machine-generated.

Best disease, caused by BEST1 gene mutations, can present unilaterally in one eye, despite bilateral retinal dysfunction. This finding aids in diagnosing atypical cases.

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Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

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Area of Science:

Ophthalmology
Genetics
Retinal Diseases

Background:

Best disease is a genetic retinal disorder typically presenting with bilateral symptoms.
Mutations in the BEST1 gene are the primary cause of Best disease.

Observation:

This study describes five patients with BEST1 mutations presenting with unilateral clinical manifestations of Best disease.
Despite unilateral eye symptoms, electrophysiological tests revealed bilateral retinal pigment epithelium dysfunction.

Findings:

BEST1 gene mutations exhibit variable penetrance and expressivity, leading to atypical unilateral presentations.
Clinical and electrophysiological findings in these cases are consistent with Best disease, despite the asymmetric ocular involvement.

Implications:

Recognizing unilateral Best disease is crucial for accurate diagnosis and genetic counseling.
This study highlights the importance of considering atypical presentations in genetic retinal disorders.