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1.
Initial diagnoses of patients found to be homozygous for a KCNV2 founder mutation on the Arabian Peninsula (c.427G>T; p.Glu143*).
Khan, Zabila; Khan, Arif O.
Ophthalmic Genet ; 44(5): 512-514, 2023 10.
Article in English | MEDLINE | ID: mdl-36278409

Subject(s)
Potassium Channels, Voltage-Gated , Humans , Homozygote , Mutation , Potassium Channels, Voltage-Gated/genetics
2.
Intermittent exotropia - a potential confounding factor for full-field electroretinography.
Alsalamah, Abrar K; Khan, Zabila; Roque, Jane; Khan, Arif O.
Ophthalmic Genet ; 41(5): 510-512, 2020 10.
Article in English | MEDLINE | ID: mdl-32552214

Subject(s)
Electroretinography/methods , Exotropia/diagnosis , Macular Degeneration/diagnosis , Adolescent , Adult , Case-Control Studies , Child , Diagnosis, Differential , Female , Humans , Male , Prognosis , Retrospective Studies , Young Adult
3.
Gustatory lid retraction: an unusual congenital cranial dysinnervation disorder.
Khan, Arif O; Khan, Zabila.
J AAPOS ; 21(6): 511-512, 2017 Dec.
Article in English | MEDLINE | ID: mdl-29107795

ABSTRACT

Congenital cranial dysinnervation disorders are developmental abnormalities of cranial nerves that often include abnormal synkinesis. Among the most common ophthalmic congenital cranial dysinnervation disorders are Duane retraction syndrome and the Marcus-Gunn jaw-winking phenomenon. This report documents gustatory lid retraction as an unusual congenital cranial dysinnervation.


Subject(s)
Cranial Nerves/abnormalities , Eyelid Diseases/diagnosis , Oculomotor Muscles/innervation , Synkinesis/diagnosis , Taste Disorders/diagnosis , Child , Female , Humans
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