Isolated Ectopia Lentis

Description

Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.

Clinical Features

Top most frequent phenotypes and symptoms related to Isolated Ectopia Lentis

  • Scoliosis
  • Nystagmus
  • Cataract
  • Cognitive impairment
  • Visual impairment
  • Hypertension
  • Malar flattening
  • Abnormal heart morphology
  • Reduced visual acuity
  • Mandibular prognathia

And another 13 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Isolated Ectopia Lentis Is also known as ectopia lentis syndrome, familial ectopia lentis.

Researches and researchers

Doctors, researchs, and experts related to Isolated Ectopia Lentis extracted from public data.

Isolated Ectopia Lentis Experts map



Current Researchs and researchers

  • PAVIA — Pr Eloisa ARBUSTINI

    Coordinator of expert centre - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Coordinator of research network - Director of laboratory - Director of department

    • Institution/s:
      — Centro Malattie Genetiche Cardiovascolari, Fondazione IRCCS Policlinico San Matteo
    • Research area/topic::

      GIMS: Interdisciplinary Team for Marfan Syndrome


  • CLEVELAND — Suneel APTE

    Investigator of research project

    • Institution/s:
      — Cleveland Clinic Lerner Com-cwru
    • Research area/topic::

      Zonule assembly and ectopia lentis



Mendelian

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Isolated Ectopia Lentis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
50 %
FBN1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

FBN1
Specificity
100 %
Genes
50 %
FBN1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

FBN1
Specificity
100 %
Genes
50 %
FBN1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

FBN1
Specificity
100 %
Genes
50 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC34A1, SLC9A3R1, TNFRSF11A, TNFRSF11B, IFITM5, SP7, FKBP10, P3H1, SLC39A13, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, FBN1, ALPL, SERPINF1, PLOD2, PLOD3, PPIB , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
NGS Aortic Dysfunction or Dilation and Related Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, ELN, FBLN5, FBN1, FBN2, SMAD3, MYH11, MYLK, NOTCH1, PLOD1
Specificity
6 %
Genes
50 %
NGS Connective Tissue Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
50 %
Marfan syndrome.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

FBN1
Specificity
100 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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