In patients with congenital nystagmus (CN), the study of vestibular function is complicated by many factors related to the measurement of the vestibulo-ocular reflex (VOR) by means of caloric testing and the video head impulse test (vHIT), and to date no such studies have successfully employed the vHIT to evaluate vestibular function in these patients. We present a case with CN and vertigo in which peripheral vestibular function was evaluated using the vHIT system, including head impulse testing and the suppression head impulse protocol. We show that it is possible (a) to identify lateral VOR changes such as abnormalities resembling those produced by bilateral vestibular lesions, though not necessarily related to the same mechanism; (b) to identify peripheral VOR lesions of the vertical semicircular canals (SCC); and (c) to document compensation and recovery subsequent to these peripheral lesions during follow-up of patients with CN. vHIT is a useful tool that should be used to study vestibular function in patients with CN and vertigo, which could constitute a new clinical application of this technique.

Congenital nystagmus (CN) and congenital cataracts are distinct eye diseases and are usually isolated. Cases with CN and congenital cataracts caused by different genes in one family have been rarely reported.
A 27-year-old man presented with CN and congenital cataracts and he underwent cataract extraction 2 weeks after birth. Three years later, he had posterior chamber intraocular lens implantation. The proband\'s mother was only afflicted by bilateral lens opacities. Lensectomy was performed in both eyes at age 15. The proband\'s daughter had bilateral central cataracts and no nystagmus. She had undergone cataract extraction when she was two months old. In this family, 8 affected individuals were affected by bilateral cataracts, and three of them presented with CN. The genetic analysis was performed using a specific Hereditary Ophthalmological Disease Gene Panel on proband and his parents (one of which was a patient). PCR and Sanger sequencing verified the presence of these variants in all members of the family. The novel mutation, c.498-3C > T, in FRMD7 explains why X-Linked recessive inheritance of CN was found in a subset of patients. A heterozygous mutation of the GJA8 gene (c.139G > C), was identified in all patients and thus explains the autosomal dominant pattern of inheritance of congenital cataracts within the family.
This is the first time that FRMD7 and GJA8 gene mutations have been linked to the pathogenesis of a family with both CN and congenital cataracts. The phenomenon of two different genetic patterns coexisting in one family is rare.