# Polydactyly-Myopia Syndrome: Genetic and Ophthalmologic Perspectives

**Authors:** Uma Swaminathan, Sachin Daigavane, Nivesh Gupta

PMC · DOI: 10.7759/cureus.58235 · Cureus · 2024-04-14

## TL;DR

This paper reports a rare genetic condition involving extra fingers/toes and severe nearsightedness, emphasizing the need for early diagnosis and genetic counseling.

## Contribution

The paper presents a new case of polydactyly-myopia syndrome and highlights its clinical and genetic significance.

## Key findings

- A 28-year-old male with polydactyly and severe myopia had a family history of the same traits.
- The case emphasizes the importance of recognizing this rare syndrome for proper clinical management.
- Further research is needed to understand the genetic basis and improve treatment strategies.

## Abstract

Polydactyly-myopia syndrome is a rare genetic condition characterized by the co-occurrence of polydactyly and myopia. Herein, we present the case of a 28-year-old Muslim male, born of consanguineous parents, who presented with complaints of diminished vision since childhood. Ophthalmologic examination revealed severe myopia with characteristic fundus changes indicative of high myopia. Additionally, the patient exhibited polydactyly in all limbs, with a positive family history of both polydactyly and myopia. This case underscores the importance of recognizing and managing rare syndromes to provide appropriate genetic counseling and clinical care. Further research is warranted to elucidate the underlying genetic mechanisms and optimize therapeutic strategies for polydactyly-myopia syndrome. Awareness of this syndrome among healthcare providers is essential to facilitate early diagnosis and intervention for affected individuals and their families.

## Linked entities

- **Diseases:** polydactyly-myopia syndrome (MONDO:0008268), myopia (MONDO:0001384)

## Full-text entities

- **Diseases:** diminished vision (MESH:D015354), polydactyly (MESH:D017689), high myopia (MESH:D009216), Polydactyly-Myopia Syndrome (MESH:C536331), condition (MESH:D020763)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11091933/full.md

## References

11 references — full list in the complete paper: https://tomesphere.com/paper/PMC11091933/full.md

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Source: https://tomesphere.com/paper/PMC11091933