Related Experiment Video

Updated: Jun 13, 2026

Surgical Correction for Pediatric Epiblepharon and Trichiasis
03:59

Surgical Correction for Pediatric Epiblepharon and Trichiasis

Published on: July 8, 2025

Blepharophimosis-ptosis-epicanthus inversus syndrome in a Pakistani pedigree

Tanveer Anjum Chaudhry1, Mirza Umair Khalid, Taimur Saleem

  • 1Section of Ophthalmology, Department of Surgery, The Aga Khan University, Karachi. tanveer.chaudhry@aku.edu

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|April 16, 2010
PubMed

Insights

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare genetic eye disorder. This report details a Pakistani family with four affected members across three generations, highlighting key diagnostic features.

Area of Science:

  • Ophthalmology
  • Medical Genetics

Background:

  • Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare congenital disorder.
  • It is characterized by specific eyelid abnormalities.

Observation:

  • A Pakistani family with four members across three generations presented with features consistent with BPES.
  • The index case, a 2-year-old girl, exhibited shortened palpebral fissures.

Findings:

  • Clinical examination revealed consistent BPES features in affected family members.
  • Specific measurements included a medial canthal distance of 30 mm and palpebral fissure dimensions of 6 mm (vertical) and 20 mm (horizontal).

Implications:

  • BPES should be considered in the differential diagnosis of blepharoptosis and blepharophimosis.
  • This case highlights the autosomal dominant inheritance pattern of BPES within a family.

More Related Videos

Iris Fixation via External Pentagram Suturing05:22

Iris Fixation via External Pentagram Suturing

Published on: May 5, 2022

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Pedigree Analysis01:35

Pedigree Analysis

Overview
Genetic Lingo01:11

Genetic Lingo

Overview
Epistasis Analysis01:09

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
Epistasis01:39

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
Cytoskeletal Linker Proteins - Plakins01:09

Cytoskeletal Linker Proteins - Plakins

Plakins are large proteins with binding domains for microtubules, microfilaments, intermediate filaments, and membrane-associated protein complexes at cell junctions. Plakin functions are evolutionarily conserved and are primarily involved in organizing the different components of the cytoskeleton by crosslinking them to each other and connecting them to the cell-matrix and cell adhesion complexes. They are also known to interact with signal transducers, serve as scaffolds for signaling...