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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype–phenotype correlation

Fig. 2

Ophthalmic and neurological examinations of the patient with biallelic SUOX mutations

(A) Slit-lamp microscope revealed superior dislocation of the lens in the right eye and superior-temporal dislocation in the left eye

(B) SS-ASOCT slides manifested dislocated lens and sparse zonules in the right (upper panel) and left eyes (lower panel)

(C) Fundus images showed grossly normal macula and optic nerves

(D) Fundus OCT images showed no anomalies in macula structure

(E) T1-weighted (left) and T2-weighted (right) brain MR images of the basal ganglia plane showed intact brain structures

(F) T1-weighted (left) and T2-weighted (right) brain MR images of the cerebellar plane showed no abnormalities

OCT, optical coherence tomography; SS-ASOCT, swept-source anterior segment optical coherence tomography; MR, magnetic resonance

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172