January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This case report describes an 8-year-old boy with neurofibromatosis type one presenting with the rare conditions of trichothiodystrophy and retinal atrophy.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
15 citations
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May 2013 in “Ophthalmic Plastic and Reconstructive Surgery” In this case study, repetitive botulinum type A toxin injections led to almost complete resolution of severe chronic pain in a patient with Parry-Romberg syndrome.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
April 2025 in “Experimental Eye Research” In this study, researchers characterized the retinal structure and function of the Oatrhg mouse model of gyrate atrophy, finding localized atrophy without significant retina-wide functional impact, suggesting the model may be useful for testing new treatments using multimodal retinal imaging.