Practical approach to syndromic pediatric retinal dystrophies
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Published on: September 3, 2020
1aSenior Consultant and International Faculty, Pediatric Ophthalmology & Ocular Genetics, C-MER (Shenzhen) Dennis Lam Eye Hospital, Shenzhen, China bDepartment of Pediatric Ophthalmology and Adult Strabismus, Aravind Eye Hospital, Anna Nagar, Madurai, India cLumbini Eye Institute, Shree Rana Ambika Shah Eye Hospital, Rupandehi, Bhairahawa, Nepal.
Insights
Ophthalmologists can diagnose pediatric retinal dystrophy by recognizing systemic disorders and key clues. Early diagnosis improves child care, parental understanding, and genetic counseling.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Pediatric retinal dystrophies can be associated with systemic disorders.
- Early recognition of syndromic associations is crucial for holistic child care.
- Molecular genetics advances aid in diagnosing rare retinal dystrophies.
Purpose of the Study:
- To outline systemic disorders linked to pediatric retinal dystrophy.
- To summarize diagnostic clues for syndromic retinal dystrophies.
- To guide ophthalmic and systemic examinations and highlight genetic testing's role.
Main Methods:
- Review of systemic disorders associated with pediatric retinal dystrophy.
- Summarization of retinal and nonretinal diagnostic clues.
- Description of systemic findings in pediatric syndromic retinal dystrophies.
Main Results:
- Molecular genetics increasingly identifies the etiology of retinal dystrophies.
- Early diagnosis impacts clinical management and genetic counseling.
- Syndromic retinal dystrophies may initially present to ophthalmologists.
Conclusions:
- Ophthalmologists play a key role in early systemic diagnosis of syndromic retinal dystrophies.
- This review serves as a resource for ophthalmologists to identify systemic associations.
- Timely diagnosis ensures comprehensive care for affected children.
Purpose Of Review:
The purpose of this review is to outline those systemic disorders that are associated with pediatric retinal dystrophy, summarize important retinal, and nonretinal clues that aid in syndromic diagnosis, provide an approach for ophthalmic and systematic systemic examination, describe the important systemic findings seen in pediatric syndromic retinal dystrophies and highlight the role of genetic testing.
Recent Findings:
With profound advances being made in the field of molecular genetics, a definitive molecular etiology is increasingly being made even in rare and unusual forms of retinal dystrophies. Early recognition and precise diagnosis of a syndromic association has major clinical implications. It not only ensures early and holistic care to the child but also provides an opportunity for the parents in better understanding the nature and course of the disorder. It greatly aids in genetic counseling.
Summary:
Many syndromic retinal dystrophies may present initially to the ophthalmologist long before they present to the pediatrician with systemic symptoms. The intent of this article is to act as a resource in assisting the ophthalmologist to arrive at an early systemic diagnosis.
