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With other symptoms:low tone, hearing loss, tumors- psuedo tumor cerebri sole complication of galactokinase deficiency (better outcome than classic galacto where most develop disturbed development dyspracia and hypergonadism)– multiple tests because 3 types. GALK, GALT, Epimeraseseizures, failure to thrive/ feeding issues Isolated/ Genetic only: Idiopathic Infections- Rubella the most common. Cardiac defects, deafness, mental retardation.Continue reading “Bloodwork & Screening for Syndromes”

Table 1 Syndromic cataract genes Gene Inheritance Disease Gene product PEX10 AR neonatal adrenoleukodystrophy, Zellweger syndrome protein of peroxisomal matrix PEX14 AR Zellweger syndrome peroxisomal import machinery HSPG2 AR Schwartz-Jampel syndrome type 1/dyssegmental dysplasia perlecan protein GALE AR galactose epimerase deficiency UDP-galactose-4-epimerase POMGNT1 AR muscular dystrophy-dystroglycanopathy type 2 transmembrane protein that resides in the GolgiContinue reading “Genetic Testing”

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3340856/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2288487/ Book- Classigied by their location size density and opacity. Polar can be anterior or posterior.Zonular/ Lamellar are in certain regions of the lens.Nuclear- develop from abnormalities in the fetal or embryonic lens nucleusCerulean- have small blue opacitiesMembranous/ capsular- result of protein reabsorption after capsular rupture or in Lowes synfdrome Unilateral vs Bilateral-Axial lengthContinue reading “Types of Cataracts”

A red reflex test detects cataract and retinoblastoma. Both conditions require urgent referral, however cataract is much more common. Within the United States, the incidence of retinoblastomas is 11-12 cases per million live births. The incidence of visually significant cataract is 300-400 per million live births (3-4 per 10,000). The red reflex test is commonly performed during the firstContinue reading “Red Reflex”

A red reflex test detects cataract and retinoblastoma. Both conditions require urgent referral, however cataract is much more common. Within the United States, the incidence of retinoblastomas is 11-12 cases per million live births. The incidence of visually significant cataract is 300-400 per million live births (3-4 per 10,000). The red reflex test is commonly performed during the first days of birthContinue reading “Red Reflex”