Inherited Retinal Dystrophy in an 11-month-old Infant with Yunis-Varon Syndrome and Homozygous FIG4 Mutation.

PURPOSE: Inherited retinal dystrophies (IRDs) may present as isolated entities or as multisystem syndromes. Yunis-Varon syndrome (YVS), seen with homozygous FIG4 mutations, is a rare autosomal recessive disorder. Herein, we report a case of YVS associated with early-onset rod-cone dystrophy.

METHODS

Ultrawide-field fundus photography was documented, along with a comprehensive genetic evaluation and a brain neurosonogram.

RESULTS

An 11-month-old child born out of a consanguineous marriage presented with absent eye contact, global developmental delay and several dysmorphic features suggestive of cleidocranial dysplasia. Fundus examination showed pigmentary retinopathy, pale disc and macular atrophic changes along with attenuated arterioles. Whole genome sequencing revealed a homozygous FIG4 variant of uncertain significance and a heterozygous likely pathogenic PANK2 variant. Basal ganglia abnormalities were seen in the neurosonogram. A diagnosis of YVS with atypical early onset rod-cone dystrophy was made.

CONCLUSION

This case presents a rare ocular finding of YVS and broadens its phenotype. This helps to highlight the importance of comprehensive ocular examination in suspected syndromic patients, which would aid in diagnosis, genetic correlation and prognostication.