Results 31 to 40 of about 1,054 (135)

Atypical Ophthalmic Presentation of First and Second Branchial Arch Developmental Anomaly

Delhi Journal of Ophthalmology
First and second branchial arch anomalies encompass a group of congenital malformations that arise from defects in the embryological development of the branchial arches, structures critical to the formation of the head and neck.
Vaishali Tomar, Rinky Agarwal, Shivani Kumari, Purva Verma, Aarushi Saini, Mittali Khurana, Subhash Dadeya   +6 more
doaj   +1 more source

Late occurrence of granular dystrophy in bilateral keratoconus: Penetrating keratoplasty and long-term follow-up

Indian Journal of Ophthalmology, 2011
We report a rare case of keratoconus with granular dystrophy with a follow-up of two decades, documenting the sequential presentation of two diseases confirmed by histology and genetic studies.
Varsha M Rathi, Geeta K Vemuganti, Virender S Sangwan, Chitra Kannabiran   +3 more
doaj   +1 more source

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT We report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Anna Bolzon, Francesca Caroppo, Lisa Passaglia, Francesca Boaretto, Leonardo Salviati, Anna Belloni Fortina   +5 more
wiley   +1 more source

Application of ultrasound biomicro-scopy in the planning of cataract surgery in anterior megalophthalmos

Indian Journal of Ophthalmology, 2011
Anterior megalophthalmos, a rare hereditary disorder, is macrocornea (horizontal corneal diameter more than 13 mm) in association with enlarged lens-iris diaphragm and ciliary ring.
Mohammad Ali Zare, Bahram Eshraghi, Mohammad Yaser Kiarudi, Ebrahim Azaripour Masoule   +3 more
doaj   +1 more source

Ultrasonographic Appearance of a Posterior Lenticonus in a Cat

Veterinary Ophthalmology, Volume 29, Issue 1, January 2026.
ABSTRACT The objective of this study is to present high‐quality and up‐to‐date ocular ultrasonographic images and videos of a posterior lenticonus with concomitant mature cataract in a cat. Additionally, the clinical findings, surgical treatment, and outcome are reported for completeness and to confirm the diagnosis.
Antonella Rampazzo, Marc Orts‐Porcar, Francesca Del Chicca   +2 more
wiley   +1 more source

Manitoba Oculo-tricho-anal Syndrome: Complex Surgical Correction of an Extensive Upper Lid Coloboma with Congenital Symblepharon

The Pan-American Journal of Ophthalmology, 2017
Manitoba Oculo-tricho-anal Syndrome (MOTA) is a rare autosomal recessive disorder characterized by eyelid coloboma, cryptophthalmos, anophthalmia or microphthalmia, abnormal hair growth from scalp to eyebrow, bifid or broad nasal tip, and ...
Suzie A Kazaryan, Alejandra A Valenzuela
doaj  

Microphthalmos with cyst : A clinical study

Indian Journal of Ophthalmology, 1993
Defects in closure of embryonic fissure and invagination of optic vesicle results in varied clinical presentation of microphthalmos with cyst. In our study, three patients had microphthalmos with cyst in one of their orbits.
Agrawal P, Kumar Hemant
doaj  

Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features

Pediatric Dermatology, Volume 42, Issue 3, Page 591-595, May/June 2025.
ABSTRACT We report a patient with clinically confirmed Schimmelpenning–Feuerstein–Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.(Ala146Thr) mutation, previously identified in three OES and ECCL patients ...
Hyvönen Hanna, Kettunen Kaisa, Avela Kristiina, Kivirikko Sirpa, Jeskanen Leila, Suominen Sinikka, Salminen Päivi, Hannula‐Jouppi Katariina   +7 more
wiley   +1 more source

Healthcare, school and daily life experiences of patients with microphthalmia or anophthalmia and their parents

Acta Paediatrica, Volume 114, Issue 3, Page 619-627, March 2025.
Abstract Aim This qualitative study explored the lived experiences of the patients with microphthalmia and anophthalmia and their parents, focusing on the healthcare, school settings and daily life challenges to improve patient management. Methods In‐depth interviews were conducted in Stockholm, Sweden, from October 2022 to June 2023. Participants were
Evin Chireh, Jonas Nordquist, Marita Andersson Grönlund, Kristina Teär Fahnehjelm   +3 more
wiley   +1 more source

Chromosome 1p31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet Deformity

Case Reports in Genetics, Volume 2025, Issue 1, 2025.
Deletions within the chromosomal locus 1p31.1 are rare, with only a limited number of documented cases. The typical clinical presentation includes intellectual disability, failure to thrive, and craniofacial abnormalities. Some cases may also present with cardiac, gastrointestinal, and genitourinary malformations.
Tatiana Mikhailova, Ria Garg, Irfan Ahmad   +2 more
wiley   +1 more source