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 nucleus
Cerulean- have small blue opacities
Membranous/ capsular- result of protein reabsorption after capsular rupture or in Lowes synfdrome
Unilateral vs Bilateral-
Axial length significantly longer in unilateral
Polar opacities involve either the anterior or posterior pole of the lens (or both, in which case they are referred to as bipolar) and may include the posterior subcapsular lens cortex (PSC) extending to the lens capsule. Posterior subcapsular cataracts can occur secondarily to a variety of insults including steroid treatment.
https://academic.oup.com/hmg/article/6/1/47/2356531
Posterior polar cataract (PPC) is a clinically distinct opacity that is located at the back of the lens and, because of its proximity to the optical center of the eye, can have a marked effect on visual acuity. Previously, PPCs have been described in association with mutation in five genes (EPHA2 on 1p36, CRYAB on 11q22-q22.3, CHMP4B on chromosome 20p12, CRYBA1/A3 on 17q12, and PITX3 on 10q25) [11–14]. PITX3 encodes a paired-like class of homeobox transcription factor, a member of the PITX family, which also includes PITX1 and PITX2. PITX2 and PITX3 are involved in eye development and are expressed in cornea, lens, and retina [15]. Mutations in PITX2 have been linked to Rieger syndrome causing glaucoma and mild craniofacial dysmorphism in humans
Zonular cataracts include specific regions of the lens and include nuclear cataracts, which affect the fetal or embryonic lens nucleus and lamellar cataracts. These tend to affect lens fibers that are formed at the same time, resulting in a shell like opacity. Zonular cataracts can also be characterized as dense or pulverulent (dusty appearing), and can be accompanied by arcuate opacities extending into the lens cortex, called cortical riders. Sutural cataracts, also called stellate, affect the sutural regions of the fetal nucleus, at which the ends of the lens fiber cells converge. Cerulean cataracts, also called blue dot cataracts, have numerous small bluish opacities in the lens cortex and nucleus. Finally, membranous or capsular cataracts can result from resorprption of lens proteins after capsular rupture, often from a traumatized or severely dysfunctional lens. In addition, there are a number of morphologically distinctive types of cataract such as the ant egg cataract and corraliform cataracts (see below).
| Locus | Chrom | Inh | Morphology |
|---|---|---|---|
| CCV (Volkmann) | 1p36 | AD | variable (progressive central and zonular nuclear cataract with sutural component), Rh linked cataracts not well described |
| CTPP | 1p34-p36 | AD | posterior polar, complete (2904) |
| FOXE3 NM_012186 | 1p32 | AD | |
| AD | ASMD and cataracts | ||
| GJA8 NM_005267 | 1q21-q25 | ||
| AD | zonular pulverulent | ||
| AD | zonular pulverulent | ||
| AD | zonular pulverulent | ||
| AD | progressive nuclear | ||
| AD | congenital nuclear | ||
| AD | lamellar pulverulent | ||
| AD | congenital total | ||
| AD | posterior subcapsular | ||
| AR | total congenital cataracts with nystagmus | ||
| AD | star shaped nuclear opacity with a whitish central core | ||
| 2p24 | AD | corraliform | |
| CCNP | 2p12 | AD | congenital embryonic nuclear (congenital cataract nuclear progressive) |
| CRYGC NM_020989 | 2q33-q35 | ||
| AD | Coppock (nuclear lamellar | ||
| AD | variable zonular pulverulent | ||
| AD | lamellar | ||
| CRYGD NM_006891 | 2q33−35 | AD | |
| AD | punctate progressive | ||
| AD | aculeiform | ||
| AD | crystalline | ||
| AD | lamellar | ||
| AD | central nuclear | ||
| AD | cerulean | ||
| AD | ? | ||
| AD | coralliform | ||
| AD | fasciculiform | ||
| AD | coralliform | ||
| AD | Nuclear/coralliform | ||
| AD | Nuclear | ||
| AD | polymorphic | ||
| AD | |||
| 3p22-p24.2 | AR | ||
| BFSP2 NM_003571 | 3q21-q22 | ||
| AD | congenital nuclear and sutural cataracts unknown myopia | ||
| AD | juvenile progressive lamellar | ||
| AD | congenital progressive sutural with myopia | ||
| AD | progressive congenital sutural (no myopia) | ||
| CRYGS NM_017541 | 3q26.3-qter | ||
| AD | progressive polymorphic cortical cataract | ||
| GCNT2 NM_001491 | 6p24-p23 | ||
| AR | i associated | ||
| AR | i associated | ||
| AR | |||
| AR | congenital | ||
| EYA1 NM_172060 | 8q13.3 | ||
| AD | congenital cataracts | ||
| AD | congenital cataracts and anterior segment anomalies | ||
| congenital nuclear cataract with nystagmus | |||
| CAAR | 9q13-q22 | AR | adult onset pulverulent |
| PITX3 NM_005029 | 10q25 | ||
| AD | ASD and congenital cataracts | ||
| AD | congenital cataracts | ||
| AD | posterior polar congenital | ||
| AD | posterior polar congenital | ||
| CRYAB NM_001885 | 11q23.3−24.2 | ||
| AD | mild “discrete” opacities | ||
| AD | posterior polar congenital | ||
| AD | lamellar congenital | ||
| AD | congenital posterior polar | ||
| AQP0 NM_012064 | 12q12−14.1 | ||
| AD | polymorphic, discrete, congenital, progressive, punctate in mid and peripheral lamellae, some with anterior and posterior opacification | ||
| AD | fine non-progressive congenital lamellar and sutural | ||
| AD | radiating, vacuolar, or dense opacities in the embryonal nucleus | ||
| GJA3 NM_021954 | 13q11−13 | AD | |
| AD | zonular pulverulent | ||
| zonular pulverulent | |||
| AD | zonular pulverulent | ||
| AD | nuclear pulverulent | ||
| AD | nuclear pulverulent with faint lamellar opacity and incomplete penetrance | ||
| AD | congenital nuclear pulverulent | ||
| AD | nuclear | ||
| AD | total | ||
| variable age, cortical and capsular | |||
| AD | nuclear punctate | ||
| AD | zonular pulverulent | ||
| AD | ant egg | ||
| AD | pearl box (lamellar with fine white nuclear spots) | ||
| CHX10 NM_182894 | 14q24.3 | ||
| AR | congenital cataracts | ||
| AR | congenital cataract | ||
| CCSSO | 15q21-q22 | AD | central pouchlike with sutural opacities |
| HSF4 NM_001538 | 16q22.1 | ||
| AD | lamellar | ||
| AD | Marner (zonular stellate with anterior polar opacity) early childhood onset | ||
| S | lamellar | ||
| S | lamellar | ||
| AR | early total (with nystagmus) | ||
| AR | nuclear with cortical extension in severe cases | ||
| AR | ? | ||
| AD | congenital total | ||
| MAF NM_001031804 | 16q23 | cataract, iris coloboma, microcornea | |
| AD | juvenile onset lamellar pulverulent | ||
| AD | congenital cerulean | ||
| CTAA2 | 17p13 | AD | anterior polar |
| CRYBA3 NM_005208 | 17q11-q12 | nuclear lamellar with sutural component | |
| AD | zonular with sutural opacities | ||
| AD | pulverulent embryonal nucleus and sutural | ||
| AD | nuclear congenital | ||
| AD | variable nuclear, sutural, and cortical opacity | ||
| AD | congenital nuclear lactescent with sutural sparing | ||
| CCA1 (Cerulean – blue dot) | 17q24 | AD | cerulean (nuclear and cortical) |
| 19q13 | AD | cortical, irregular or spherical vacuolated white opacities | |
| 19q13.4 | AR | bilateral congenital nuclear | |
| FTL NM_000146 | 19q13.4 | AD | Multiple bread crumblike nuclear and cortical lens opacities |
| LIM2 NM_002316 | 19q | ||
| AR | presenile | ||
| BFSP1 NM_001195 | 20p11.23-p12.1 | ||
| AR | developmental | ||
| CPP3 | 20p12-q12 | AD | progressive, discshaped, posterior subcapsular opacity; congenital zonular nuclear |
| CHMP4B NM_176812 | 20q11.22 | AD | progressive childhood posterior subcapsular |
| AD | progressive childhood posterior subcapsular | ||
| AD | posterior polar | ||
| CRYAA NM_000394 | 21q22.3 | ||
| AD | congenital zonular central nuclear, some with microcornea | ||
| AR | congenital (xed first 3 mo) | ||
| AD | nuclear | ||
| Spo radi c | nuclear, with fundus hypoplasia (mutation in P) | ||
| AD | fan shaped with microcornea | ||
| AD | presenile progressing from lamellar to total | ||
| AD | posterior polar progressing to dense nuclear and laminar, with involvement of anterior and posterior poles | ||
| AD | central and laminar with varying anterior and posterior polar components | ||
| AD | nuclear with polar and/or equatorial ramification | ||
| CRYBB2 NM_00496 | 22q11.2 | ||
| AD | crerulean | ||
| AD | Coppock (nuclear lamellar | ||
| AD | Sutural and cerulean | ||
| AD | ? | ||
| AD | congenital nuclear with cortical ring | ||
| AD | ? | ||
| AD | Progressive polymorphic congenital | ||
| CRYBB1 NM_001887 | 22q11.2 | AD | pulverulent |
| AD | pulverulent | ||
| AD | dense nuclear with cortical riders and anterior and posterior polar opacities and microcornea | ||
| AD | ? | ||
| AR | nuclear | ||
| CRYBB3 NM_004076 | 22q11.2 | ||
| AR | nuclear | ||
| CRYBA4 NM_001886 | 22q11.2 | ||
| AD | congenital lamellar | ||
| CXN | Xp22 | XL | Nuclear, fan shaped |
| NHS NM_198270 | Xp22.13 | XL | Congenital |
| XL | congenital, total | ||
| XL | congenital,, total | ||
| XL, de nov o | congenital, total | ||
| XL | congenital, total | ||
| XL | congenital, total | ||
| XL | congenital, total | ||
| XL | congenital, total | ||
| XL | congenital, total | ||
| XL | congenital, total | ||
| XL | congenital, total | ||
| XL | congenital, total | ||
| XL | congenital, total | ||
| XL | congenital, total | ||
| XL | congenital, total | ||
| XL | prenatal |
Welcome 