Bilateral retinal hemorrhages following finger pressure against the soft palate (الترفيع) in recessive CRB1-related retinopathy.

PURPOSE: To report two siblings with CRB1-related retinopathy who developed retinal hemorrhages following village traditional treatment of upward finger pressure against the soft palate ([Formula: see text]). METHODS: A retrospective case series. RESULTS: Two sisters were clinically diagnosed and genetically confirmed to have recessive CRB1-related retinal dystrophy. The family did not accept the condition as non-treatable and took both sisters for a traditional village therapy, consisting of several sessions of intense upward index finger pressure by the healer against the soft palate for each child. When examined following this therapy, both sisters had bilateral pre-retinal hemorrhages which were not present before the intervention and resolved without sequelae over the next several months. CONCLUSIONS: The traditional village therapy may have compromised retinal venous outflow and/or provoked a Valsalva phenomenon, leading to the bilateral retinal hemorrhages. The fact that this occurred bilaterally and in both sisters supports the concept of relative vessel wall incompetence as part of CRB1-related retinopathy.

The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.

BACKGROUND: Conorenal syndrome is a systemic skeletal ciliopathy characterised by skeletal and renal findings and caused by biallelic mutations in the gene intraflagellar transport 140 Chlamydomonas homologue (IFT140). Most studies have focused on syndromic features and are by non-ophthalmologists. We highlight the ophthalmic phenotype. METHODS: Retrospective consecutive case series (2010-2014). RESULTS: Twelve subjects with confirmed homozygous mutations were identified (11 consanguineous families; 7 boys; assessed at age 10 months to 20 years, average and median age 6.5 and 4 years). All were homozygous for the same IFT140 mutation (c.1990G>A; p.Glu664Lys) except one who was homozygous for c.1541_1542delinsAA. All had poor vision and nystagmus since birth, with visual acuity after 5 years old of hand motions or light perception. In early childhood, nine were noted to stare at lights, four were noted to have a happy demeanour, high hyperopia was typical, and electroretinography was non-recordable. Fundus appearance was grossly normal before the age of 1 year but thereafter appeared dystrophic. Eight children had developmental delay, two had short stubby fingers, and one had renal disease, but four had no evident extraocular disease, including one aged 18 years who also had two older affected siblings in their twenties who remained non-syndromic and were excelling academically. CONCLUSIONS: Recessive IFT140 mutations cause a severe congenital retinal dystrophy with high hyperopia and often early photophilia. Developmental delay is common but not universal and not all patients have obvious extraocular findings. The c.1990G>A mutation represents a founder effect or mutational hotspot on the Arabian Peninsula.

Prevalence of hearing impairment in siblings of deaf children.

OBJECTIVE: To assess the prevalence of hearing impairment in siblings of children with profound to total hearing impairment. METHOD: Two hundred and twenty siblings of children at a deaf school in Karachi completed the screening program. This consisted of a questionnaire and pure tone audiometry. RESULTS: One out of three (73 siblings) had a threshold of 25 dB or greater in their better ear. In a population, already aware of hearing loss, we note that only fifteen siblings had a previous audiogram. Although a positive family history is associated with hearing impairment in the siblings, no increase due to consanguineous marriages was noted. CONCLUSION: This assessment has underlined the need to increase public awareness of hearing impairment. It has also exposed the lack of it in families exposed to the condition.