Abstract
PurposeTo characterize a series of 7 patients with cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI) owing to confirmed mutations in CNNM4, first described as “Jalili Syndrome.”DesignRetrospective observational case series.MethodsSeven patients from 6 families with Jalili Syndrome were identified at 3 tertiary referral centers. We systematically reviewed their available medical records, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence imaging (FAF), color fundus photography, and electrophysiological assessments.ResultsThe mean age at presentation was 6.7 years (range 3-16 years), with 6 male and 1 female patient. CNNM4 mutations were identified in all patients. The mean Snellen best-corrected visual acuity (BCVA) at presentation was 20/246 (range 20/98 to 20/399) in the right eye and 20/252 (range 20/98 to 20/480) in the left. Nystagmus was observed in all 7 patients, and photophobia was present in 6. Funduscopic findings at presentation were variable, ranging from only mild disc pallor to retinal vascular attenuation and macular atrophy. Multimodal imaging demonstrated disease progression in all 7 patients over time. Electroretinography uniformly revealed progressive cone-rod dysfunction.ConclusionsJalili Syndrome is a rare CORD associated with AI. We have further characterized its ocular phenotype, including describing SD-OCT, FAF, and electrophysiological features; and report several novel disease-causing sequence variants. Moreover, this study presents novel longitudinal data demonstrating structural and functional progression over time, allowing better informed advice on prognosis.
Highlights
T HE ASSOCIATION OF AMELOGENESIS IMPERFECTA (AI) with cone-rod dystrophy (CORD) was originally described in a consanguineous Arabic family with 29 affected members, who resided in the Gaza strip.[1,2,3]
Description of spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence imaging (FAF), electrophysiological features, and visual parameters; and present novel longitudinal data for all patients, 2 of whom have more than 15 years of follow-up at the same center
PATIENTS 1 AND 2: Patients 1 and 2 in our study were brothers of Kosovan descent and have been briefly described previously.[2]. They presented to Moorfields Eye Hospital at ages 6 and 4, respectively, with fine pendular nystagmus, reduced visual acuity, and marked photophobia from early infancy—raising the clinical suspicion of achromatopsia
Summary
T HE ASSOCIATION OF AMELOGENESIS IMPERFECTA (AI) with cone-rod dystrophy (CORD) was originally described in a consanguineous Arabic family with 29 affected members, who resided in the Gaza strip.[1,2,3] The condition has been given the eponym Jalili syndrome, after one of the authors who originally described the condition in 1988.3. The first group demonstrates a quantitative defect of enamel, and is known as primarily hypoplastic AI. This is characterized by thin or missing areas of enamel, but the teeth are otherwise normal in structure. The original Gaza family with Jalili syndrome demonstrated genetic linkage to 2q11.2,3,10 In our previous publication describing 2 Kosovan brothers with this condition, we established linkage to 2q11.2 Subsequently, Parry and associates identified 9 disease-causing variants in CNNM4 (encoding a putative metal transporter) in these brothers and other affected patients (from Gaza, Scotland, Turkey, Guatemala, and Iran).[3]. We identify that Jalili syndrome is characterized by a severe early-onset and progressive CORD, with a poor visual prognosis
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
