Browsing by Author "Kozak, Igor"

Filter results by typing the first few letters
Now showing 1 - 2 of 2
  • No Thumbnail Available
    Publication
    Comprehensive Ocular Examination of Healthy Newborns in the Middle East
    (2020) Ali, Syed M. A.; Kozak, Igor
    Purpose: To report the prevalence of the perinatal ocular disease in healthy infants referred to a referral eye centre in the Middle East region for comprehensive ocular examinations. Methods: All healthy full-term babies born at a tertiary care women’s and children hospital were referred to Moorfields Eye Hospital Centre in Abu Dhabi (MEHCAD), the United Arab Emirates for comprehensive ocular examination between January 2018 and April 2019. The examination included red-reflex testing, external, anterior and dilated posterior segment examination, and refraction. Results: Out of 6836 newborns, 4719 (69%) were not referred due to lack of national insurance (n = 3089), out of network referral (n = 1405), required ROP screening (n = 220) and identification of systemic diagnosis (n = 5). Of 2117 eligible referrals 897 (42%) babies were not examined because they either did not attend (890) or had a double booking for ROP screening (7); hence, 1220 babies (56%) were examined. Their mean age was 39 ± 16 days, and 48.8% were male, 51.2% were female. One hundred and sixty-four (13.4%) babies had an ocular abnormality in 249 (10.2%) eyes. The commonest abnormalities were nasolacrimal duct obstruction (36%) and refractive errors in 53 patients (32.3%). Congenital cataract and ptosis were present in four (0.3%) and three (0.2%) babies, respectively. The commonest retinal findings were intra-retinal haemorrhages (1.4%). Other posterior pole abnormalities included optic disc pit (0.08%) and myelinated nerve fibers (0.08%). One eye (0.08%) had a congenital macular hole. Conclusion: Comprehensive ocular examinations of healthy infants identifies a number of ocular abnormalities that would not be detected using red-reflex testing by a paediatrician or nurse.
  • Thumbnail Image
    Publication
    Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene
    (2024) Kozak, Igor; Ali, Sayed M
    Abstract Purpose: To describe unique ocular features in a child with Joubert syndrome type 6. Observations: A 4-year-old male patient presented with right microphthalmia and non-dilating pupil and left primary position nystagmus. Brain MRI revealed a “molar tooth sign” of the midbrain and a “batwing sign” of the fourth ventricle along with large retroorbital cysts bilaterally. The diagnosis of autosomal recessive Joubert syndrome type 6 due to homozygous pathogenic variant c.725A > G p. (Asn242Ser) in TMEM67 gene was confirmed by whole exome sequencing. Left eye had nystagmus and the left optic nerve and retina showed epipapillary and subretinal fibrosis, respectively. Scleral buckle was performed for left non-rhegmatogenous retinal detachment which then improved and has been stable. Conclusions and Importance: We present a rare case of JS with some unique ophthalmic features which expand clinical knowledge on this complex systemic and ocular entity.