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April 1, 2026Indian Journal of Ophthalmology - Case ReportsOpen Access

Adult-onset cone dystrophy is the need for genetic screening

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Key Points

This case report aims to highlight the importance of genetic screening in adult-onset cone dystrophy.
Presented a 32-year-old female patient with visual symptoms and photophobia.
Conducted optical coherence tomography to analyze retinal structure.
Performed whole-exome sequencing to identify genetic mutations.
Patient exhibited best corrected visual acuity of 0.5 in both eyes.
Optical coherence tomography revealed characteristic bilateral central macular hyporeflective areas.
Whole-exome sequencing identified a heterozygous RAX2 mutation.

Implication

Case report shows genetic screening identifies RAX2 mutation in a patient with photophobia and visual impairment.

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Cite This Study

Fubin Wang (2026) studied this question.

synapsesocial.com/papers/6a03cbbe1c527af8f1ecf76a https://doi.org/10.4103/ijo.ijo_2156_25

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