Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B

Wenjia Yan; Li Huang; Limei Sun; Xiaoyan Ding

doi:10.1016/j.ajoc.2022.101586

Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B

Am J Ophthalmol Case Rep. 2022 May 14:27:101586. doi: 10.1016/j.ajoc.2022.101586. eCollection 2022 Sep.

Authors

Wenjia Yan¹, Li Huang¹, Limei Sun¹, Xiaoyan Ding¹

Affiliation

¹ State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, 510000, China.

Abstract

Purpose: To report a rare case of Molybdenum Cofactor Deficiency with novel ocular manifestations.

Observations: This is a case study of a 6-year-old boy who initially presented with conjunctival hyperemia and ocular pain of the left eye. Medical history revealed refractory convulsion, global developmental delay, microcephaly, feeding difficulties, aphasia, and spastic quadriplegia, as well as pathogenic MOCS2 mutations, indicating the diagnosis of molybdenum cofactor deficiency (MoCD). This case report highlights detailed ocular manifestations of late-onset MoCD-B, ectopia lentis of bilateral eyes, spherophakia, hyperemia, secondary glaucoma, cyclodialysis, and retinal detachment of the left eye, which will help further understanding of MoCD.

Conclusions and importance: MoCD as a rare genetic disease is tend to be easily neglected. The ophthalmic examination could provide important evidence for early diagnosis.

Keywords: ERG, electroretinogram; Ectopia lentis; FFA, fundus fluorescein angiography; MPT, molybdopterin; MRI, magnetic resonance imaging; MoCD, molybdenum cofactor deficiency; Molybdenum cofactor deficiency; Retinal detachment; Spherophakia; UBM, ultrasound biomicroscopy; cPMP, cyclic pyranopterin monophosphate.

Publication types

Case Reports