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Rat Model of Photochemically-Induced Posterior Ischemic Optic Neuropathy
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[Hereditary optic neuropathies in pediatric ophthalmology]
C Orssaud1, M P Robert2, D Bremond Gignac3
1UF d'ophtalmologie HEGP, 20, rue Leblanc, 75015 Paris, France; CRMR Ophtara, 75015 Paris, France.
Journal Francais D'Ophtalmologie
|May 22, 2018
Summary
Early-onset hereditary optic neuropathies (HON) are not uncommon and present with severe visual impairment, similar to adult-onset cases. Prognosis varies based on specific genetic causes, highlighting the need for early diagnosis and management of pediatric HON.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Hereditary optic neuropathies (HON) typically manifest in adulthood.
- However, early-onset forms of HON can occur in children, presenting unique clinical characteristics and disease progression.
Purpose of the Study:
- To investigate the clinical features, genetic causes, and visual outcomes of hereditary optic neuropathies with onset before age 14.
- To compare the prognosis of early-onset HON with adult-onset forms.
Main Methods:
- Retrospective analysis of 44 pediatric patients diagnosed with HON before age 14.
- Evaluation included age of onset, genetic etiology, visual acuity, optic disc appearance, visual fields, and extra-ocular manifestations.
Main Results:
- Early-onset HON constituted 27.8% of all HON patients, with a mean onset age of 8.5 years.
- Common genetic forms included Leber's hereditary optic neuropathy (LHON), dominant optic atrophy, and WS/WS-like syndrome.
- Visual prognosis was severe, with significant vision loss in a substantial proportion of patients, varying by genetic diagnosis.
Conclusions:
- Pediatric-onset hereditary optic neuropathies are a significant clinical entity.
- The visual prognosis for early-onset HON is comparable to adult-onset forms and is influenced by the underlying genetic etiology.
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