China
Africa
Explore chapters and articles related to this topic
Ophthalmology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Uncommonly a pupil or pupils may be less than 2 mm, and may react poorly to dilating drops. This may be due to congenital miosis (microcoria) when there is an absence of the dilator pupillae muscle or fibrous contraction secondary to persistent pupillary membrane. It can be seen in congenital rubella syndrome, Marfan syndrome, in 20% of Lowe (oculocerebrorenal) syndrome and in ectopia lentis et pupillae.
Development of neovascular glaucoma after intraocular surgery in Pierson syndrome
Published in Ophthalmic Genetics, 2021
Moustafa S. Magliyah, Sulaiman M. Alsulaiman
She underwent vitrectomy, laser photocoagulation around the breaks and to ablate the avascular retina, and silicone oil tamponade. She maintained flat retina with controlled IOP and BCVA of 20/300 at 1-year follow-up (Figure 1D). Assessment of her 19-year-old brother revealed a BCVA of 20/200 in both eyes. Anterior segment examination was unremarkable without microcoria. Fundus examination (Figure 2A, B) revealed tilted discs, parapapillary atrophy and tessellated fundus, macular atrophy, and peripheral retinal thinning. FA (Figure 2C, D) revealed avascular retinal periphery along with choroidal vascular show corresponding to the peripheral thinning area. Urine analysis of the proband revealed moderate proteinuria (100 mg/dl, normal level is <10 mg/dl). Twenty-four-hour albumin level was 1490 mg (normal is <30 mg). Albumin creatinine ratio was 1160 mg/g (normal is <20 mg/g). A homozygous c.4573 + 1 G > A variant in LAMB2 gene was found in the proband on next-generation sequencing (NGS). The NGS panel included the following genes: COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, LOXL3, LAMB2 and LRPAP1 (Bioscientia, Ingelheim, Germany). Based on in silico predictions, the c.4573 + 1 G > A variant leads to significant alteration of the mRNA splicing due to an altered donor splice site. This variant has already been described in a family with three affected members with proteinuria and high myopia with retinal detachments without microcoria (6). Based on the available data, this variant is considered pathogenic.
Congenital microcoria in a Saudi family
Published in Ophthalmic Genetics, 2019
Abdullah Al-Owaid, Motazz Alarfaj, Abdullah Al-Qahtani, Khalid Al-Arfaj
Current information suggests that congenital microcoria is a single locus disorder and is genetically homogeneous. It is caused by a deletion in the long arm of chromosome 13 (13q32.1) This has previously been reported in French, Indian, Japanese, and Mexican families and has now been confirmed in our study of a family from Saudi Arabia. To the best of our knowledge, this is the first genetic report on microcoria using a population from Saudi Arabia.