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, Epimerase
seizures,
failure to thrive/ feeding issues
Isolated/ Genetic only:
Idiopathic
Infections- Rubella the most common. Cardiac defects, deafness, mental retardation. Pearly white nuclear opacity, sometimes complete. Cortex may liquefy. Complicated by excessive postop inflammation caused by release of virus. Thrombocytopenic rash, heart murmur. Practically nonexistent in US.
Toxoplasmosis
Tococariasis
Cytomegalovirus
(British Congenital Cataract Interest Group found 65% infections in 243 children)
Hargaard et al published findings that idiopathic infantile cataracts were noted more ofted in low birth weight (less that 2kg), and corroborated by Prakalapakorn
Lowes Syndrome
OCFD- long roots, hammer toes, missing teeth, teeth in wrong places, BCOR, cleft palate, cardiac issues,
Galactosemia- 3 types, vomiting, failure to thrive, liver disease- nuclear or posterior/ anterior subscapsular “oil Droplet”. Initially reversible
Ushers
Wilson Diseas- anterior subcapsular with sun flower appearance. Resolve with penicillin
Norrie Diesase- retinal folds detachment, sensorineural deafness NDP gene
Nance Horan- males nuclear, females posterior y sutural cataract
hyperferritinemia-cataract syndrome- nuclear cataract onset of cataracts, usually between the second and fourth decades of life. However, onset of the disorder has been reported in children as young as five a
Marfans
Warburg Micro
Hypotonia-
Between 8.3 and 25 percent of congenital cataracts are believed to be inherited [14], [15], [16]. The lens alone may be involved, accounting for approximately 70% of congenital cataracts [16]. Conversely, lens opacities may be associated with other ocular anomalies such as microphthalmia, aniridia, other anterior chamber developmental anomalies, or retinal degenerations, seen in approximately 15% of cases. Cataracts may also be part of multisystem genetic disorders such as chromosome abnormalities, Lowe syndrome or neurofibromatosis type 2, also accounting for approximately 15% of congenital cataracts. In some cases this distinction can be blurred, e.g. in the developmental abnormality anterior segment mesenchymal dysgenesis resulting from abnormalities in the PITX3 gene, inherited cataracts may be isolated in some family members and associated with additional findings in others [17].
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2288487/
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