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  1. NGS Panel – Genetic Testing for Cataract

Cataract

April 06, 2018

Disease summary:

Cataract refers to the clouding of the lens in the eye, defined as opacification of the normally transparent crystalline lens. Cataracts are common in older people and usually related to aging. They can be classified by the age at onset as congenital or infantile (<1yr); juvenile cataract (1-10yrs); presenile cataract (<45yrs) and senile or age-related cataract (>45yrs)1.

It is important to determine if the individual has non-syndromic (only the lens are affected) or syndromic (other organs in addition to the lens are affected) congenital cataracts. The most common causes of non-syndromic congenital cataracts are pathogenic variants in lens crystallin - associated genes (CRYAA, CRYAB, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD) which account for ~50% of all cases1, 2, 4


Autosomal dominant, autosomal recessive

1-6/10,000 for congenital cataract1; 1-15/10,000 in children 1, 3.

Major signs and symptoms of cataracts include 1, 3, 4:

  • Clouded, blurred or dim vision
  • Increasing difficulty with vision at night
  • Sensitivity to light and glare
  • Need for brighter light for reading and other activities
  • Seeing "halos" around lights
  • Frequent changes in eyeglass or contact lens prescription
  • Fading or yellowing of colors
  • Double vision in a single eye
  • Visual acuity test.
  • Slit-lamp examination.
  • Retinal exam.
  • Diagnosis is confirmed by the finding of pathogenic variant in one of the following genes: AGK, BCOR, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, EPHA2, EYA1, FOXC1, FOXE3, FTL, FYCO1, GALK1, GCNT2, GJA3, GJA8, HSF4, LEMD2, LIM2, LSS, MAF, MIP, NHS, P3H2, PAX6, PITX3, SIPA1L3, SLC16A12, TDRD7, UNC45B, VIM, VSX2, WFS1.

The only effective treatment for cataracts is surgery 1, 2.

  • Corneal disease
  • Glaucoma
  • Optic nerve disease
  • Eye injury, eye tumors
  • Macular disease
  • Medications affecting central nervous system

To confirm/establish the diagnosis, CENTOGENE offers the following testing strategy for cataract using NGS Panel Genomic:

Step 1: Whole genome sequencing from a single filter card (drop of blood), covering the entire genic region (coding region, exon/intron boundaries, intronic and promoter) for all the genes included in the cataract panel. Copy Number Variants analysis derived from NGS data is also included.

Step 2: If no pathogenic variant is identified in Step1, continue with bioinformatics analysis covering genes that are either implicated or associated with overlapping phenotype or similar pathways.   

  • Individuals with early onset of cataracts.
  • Individuals with a positive family history of cataract.
  • Individuals with most common symptoms suggestive of cataracts (regardless of family history).

Confirmation of a clinical diagnosis through genetic testing of cataract can allow for genetic counseling and may direct medical management.