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Cataract 19 multiple types(CTRCT19)

MedGen UID:
815334
Concept ID:
C3809004
Disease or Syndrome
Synonyms: CATARACT 19, CONGENITAL TOTAL; CATARACT 19, CORTICAL PULVERULENT
 
Gene (location): LIM2 (19q13.41)
 
Monarch Initiative: MONDO:0014111
OMIM®: 615277

Definition

CTRCT19 is characterized by autosomal dominant or recessive cataract of various types, including pulverulent, late-onset cortical pulverulent, total, nuclear, membranous, lamellar, sutural, and posterior polar cataract. Other ocular features include nystagmus, amblyopia, and esotropia. Intrafamilial and intraindividual variability has been reported (Pras et al., 2002; Ponnam et al., 2008; Berry et al., 2020; Pei et al., 2020; Wang et al., 2021; Fernandez-Alcalde et al., 2021; Berry et al., 2022). [from OMIM]

Clinical features

From HPO
Amblyopia
MedGen UID:
8009
Concept ID:
C0002418
Disease or Syndrome
Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Cortical pulverulent cataract
MedGen UID:
867210
Concept ID:
C4021568
Disease or Syndrome
A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.

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