Results 11 to 20 of about 1,007 (198)

Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families [PDF]

Human Mutation, Volume 2026, Issue 1, 2026.
Primary congenital glaucoma (PCG) is an early‐onset eye disorder, particularly prevalent in populations with high consanguinity rates. In Pakistan, approximately 63% of marriages are reported to be consanguineous, contributing to an increased burden of autosomal‐recessive disorders.
Hamza Khan, Sadia Bukhari, Nauman Ahmad, Israr Ahmed Bhutto, Yousaf Jamal Mahsood, Mohsin Iqbal Haroon, Muhammad Moeez Uddin, Amal Shabir Memon, Atta Ur Rehman, Shah Zainab, Asad Munir, Syeda Hafiza Benish Ali, Muhammad Ajmal, Raheel Qamar, Jibril Hirbo, Maleeha Azam, Humaira Ayub, Miklos Sahin -Toth   +17 more
wiley   +2 more sources

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review [PDF]

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
We report a novel homozygous pathogenic PGAP3 variant (c.202dupT; p.Cys68fs*2) in a child with hyperphosphatasia and severe neurodevelopmental impairment. Elevated alkaline phosphatase guided diagnosis, expanding the genotypic and phenotypic spectrum of PGAP3‐related HPMRS.
Arash Salmaninejad, Mohammad Reza Seyedtaghia, Ali Hosseini Bereshneh, Nasrin Azizi, Reza Bayat, Somaye Esnaashari, Vahid Aminzadeh, Shahin Koohmanaee, Shahram Savad, Majid Mojarrad, Setila Dalili   +10 more
wiley   +2 more sources

Head and Neck Clinical Signs Associated With Diseases: A Scoping Review [PDF]

Special Care in Dentistry, Volume 46, Issue 3, May/June 2026.
ABSTRACT Objective Clinical signs observed during head and neck examination offer important diagnostic clues. This scoping review aimed to identify key clinical signs in this region associated with diseases and syndromes and to map them according to their location. Methods An electronic literature search was performed in five databases (Embase, LILACS,
Helena Miguel Cotter, Mateus José Dutra, Gustavo Davi Rabelo, Ana Carolina Prado Ribeiro, Marcio Ajudarte Lopes, Márcio Diniz‐Freitas, Luiz Paulo Kowalski, Alan Roger Santos‐Silva, Caique Mariano Pedroso   +8 more
wiley   +2 more sources

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. [PDF]

PLoS ONE, 2014
We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a reliable clinical diagnostic tool to distinguish between MGC1 and primary congenital glaucoma (
Alice E Davidson, Sek-Shir Cheong, Pirro G Hysi, Cristina Venturini, Vincent Plagnol, Jonathan B Ruddle, Hala Ali, Nicole Carnt, Jessica C Gardner, Hala Hassan, Else Gade, Lisa Kearns, Anne Marie Jelsig, Marie Restori, Tom R Webb, David Laws, Michael Cosgrove, Jens M Hertz, Isabelle Russell-Eggitt, Daniela T Pilz, Christopher J Hammond, Stephen J Tuft, Alison J Hardcastle   +22 more
doaj   +2 more sources

Spontaneously arrested primary congenital glaucoma [PDF]

Oman Journal of Ophthalmology
This case report explores a unique instance of primary congenital glaucoma (PCG), where the expected progression was unexpectedly halted without intervention.
Priyasha Goel, Julie Pegu, Suneeta Dubey, Monica Gandhi   +3 more
doaj   +2 more sources

Trans-iris vertical intrascleral haptic fixation of IOL: The bypass technique in eyes with megalocornea [PDF]

Indian Journal of Ophthalmology
Intrascleral haptic fixation of intraocular lens (IOL) is an extremely useful technique to provide visual rehabilitation in eyes with inadequate capsular support.
Rajesh Sinha, Aafreen Bari, Shahnaz Anjum   +2 more
doaj   +2 more sources

Anterior megalophthalmos: Is visual restoration possible?

Oman Journal of Ophthalmology, 2018
We report two cases of anterior megalophthalmos with cataract. Both cases have megalocornea, cavernous anterior chamber, enlarged iris–lens diaphragm, and normal axial length. The vision was less due to cataract.
Alok Sati, Somasheila I Murthy, S Arjun, Varsha M Rathi   +3 more
doaj   +2 more sources

Persistent hyperplastic primary vitreous in a child with incontinentia pigmenti and infantile spasms

Oman Journal of Ophthalmology, 2022
Incontinentia pigmenti (IP) is a rare neurocutaneous syndrome of X-linked dominant inheritance (1:40000 births in the Caucasian population) which is usually lethal in males.
Siddharth Madan, Zia Chaudhuri
doaj   +2 more sources

Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome [PDF]

Int J Mol Sci, 2023
Three years ago, our patient, at that time a 16-month-old boy, was discovered to have bilateral kidney lesions with a giant tumor in the right kidney. Chemotherapy and bilateral nephron-sparing surgery (NSS) for Wilms tumor with nephroblastomatosis was ...
Nadezhda V. Shilova, Marina E. Minzhenkova, Rena A. Zinchenko, Peter A. Sparber, Tatyana A. Vasilyeva, Natella V. Sukhanova, Fatima K.-M. Baybagisova, Andrey V. Marakhonov, Margarita V. Teleshova, Sergey I. Kutsev, Natalya A. Andreeva   +10 more
core   +2 more sources

Complex limbal choristoma in linear nevus sebaceous syndrome managed with scleral grafting

Indian Journal of Ophthalmology, 2016
Linear nevus sebaceous syndrome (LNSS) is characterized by nevus sebaceous, mental retardation, seizures, and ocular abnormalities such as complex limbal choistoma.
Nitin Trivedi, Girish Nehete
doaj   +2 more sources