OCULAR FINDINGS IN A PATIENT WITH ECTODERMAL DYSPLASIA
| Autor: | Mustafa Kosker, Tolga Biçer, Canan Gürdal, Sinan Caliskan, Osman Çelikay |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Retinal venous tortuosity Ectodermal dysplasia medicine.medical_specialty Angiogenesis Young Adult 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Ectodermal Dysplasia Ophthalmology Retinal Vein Occlusion medicine Humans Trichomegaly Retinal pathology business.industry Meibomian gland dysfunction Meibomian Glands Retinal General Medicine medicine.disease 030104 developmental biology chemistry 030221 ophthalmology & optometry Dry Eye Syndromes medicine.symptom business |
| Zdroj: | RETINAL Cases & Brief Reports. 12:219-223 |
| ISSN: | 1935-1089 |
| DOI: | 10.1097/icb.0000000000000488 |
| Popis: | Purpose Ectodermal dysplasia (ED) results from abnormal development of the ectodermal layer. Although coexistence of ED and retinal pathology has been described, concomitance with retinal venous tortuosity has not been reported in the literature. Methods Case report. Results We report the case of a 23-year-old man with ED with bilateral retinal venous tortuosity, trichomegaly, meibomian gland dysfunction, and dry eye. Although the coexistence of ED with trichomegaly and meibomian gland dysfunction has been previously reported, to the best of our knowledge, this is the first reported case of retinal venous tortuosity associated with ED. Conclusion Coexistence of retinal venous tortuosity and ED may be the consequence of a genetic mutation affecting cellular signaling pathways during retinal angiogenesis. |
| Databáze: | OpenAIRE |
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