Microphthalmia Latest Advances

Microphthalmos, rudimentary iris tissue, fundal coloboma and anophthalmos in ectrodactyly ectodermal dysplasia cleft lip/palate syndrome.

Journal: BMJ case reports

Published: April 03, 2026

Severe early-onset retinal and lenticular abnormalities associated with homozygous c.575T>C (p.Ile192Thr) variants in the VSX2 gene.

Journal: Ophthalmic genetics

Published: March 12, 2026

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Journal: Ophthalmic genetics

Published: March 08, 2026

Severe congenital toxoplasmosis with isolated central hypothyroidism: A rare case report.

Journal: Journal of neonatal-perinatal medicine

Published: February 18, 2026

Genetic analysis of a child with Oculo-facio-cardio-dental syndrome due to a deletional variant of BCOR gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: February 06, 2026

Congenital aniridia with microphthalmia and cataract as unusual ocular features in RAB3GAP1-related Warburg micro syndrome.

Journal: Journal francais d'ophtalmologie

Published: February 03, 2026

A Twist1-regulated distal enhancer crucial for Alx1 gene expression and function during craniofacial development.

Journal: Developmental biology

Published: January 30, 2026

Cyclin D1 demonstrates superior sensitivity and consistent nuclear expression compared with MiTF in cellular neurothekeoma.

Journal: Virchows Archiv : an international journal of pathology

Published: January 28, 2026

Congenital Corneal Staphyloma in an Asian Infant With Kabuki Syndrome Confirmed by a KMT2D Mutation.

Journal: The Journal of craniofacial surgery

Published: January 19, 2026

Diquat-induced central nervous system injury: serum multi-omics and zebrafish evidence for histidine-methylmalonate imbalance and neuroinflammation.

Journal: Chemico-biological interactions

Published: January 05, 2026

Congenital tarsal kink syndrome.

Journal: Journal francais d'ophtalmologie

Published: December 26, 2025

Refractive Results and Complications of Lensectomy in Simple Extreme Microphthalmos Cases.

Journal: Turkish journal of ophthalmology

Published: December 25, 2025

Microphthalmia Latest Advances

Find the Latest Research About Microphthalmia

Microphthalmos, rudimentary iris tissue, fundal coloboma and anophthalmos in ectrodactyly ectodermal dysplasia cleft lip/palate syndrome.

Microphthalmos, rudimentary iris tissue, fundal coloboma and anophthalmos in ectrodactyly ectodermal dysplasia cleft lip/palate syndrome.

Severe early-onset retinal and lenticular abnormalities associated with homozygous c.575T>C (p.Ile192Thr) variants in the VSX2 gene.

Severe early-onset retinal and lenticular abnormalities associated with homozygous c.575T>C (p.Ile192Thr) variants in the VSX2 gene.

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Severe congenital toxoplasmosis with isolated central hypothyroidism: A rare case report.

Severe congenital toxoplasmosis with isolated central hypothyroidism: A rare case report.

Genetic analysis of a child with Oculo-facio-cardio-dental syndrome due to a deletional variant of BCOR gene

Genetic analysis of a child with Oculo-facio-cardio-dental syndrome due to a deletional variant of BCOR gene

Congenital aniridia with microphthalmia and cataract as unusual ocular features in RAB3GAP1-related Warburg micro syndrome.

Congenital aniridia with microphthalmia and cataract as unusual ocular features in RAB3GAP1-related Warburg micro syndrome.

A Twist1-regulated distal enhancer crucial for Alx1 gene expression and function during craniofacial development.

A Twist1-regulated distal enhancer crucial for Alx1 gene expression and function during craniofacial development.

Cyclin D1 demonstrates superior sensitivity and consistent nuclear expression compared with MiTF in cellular neurothekeoma.

Cyclin D1 demonstrates superior sensitivity and consistent nuclear expression compared with MiTF in cellular neurothekeoma.

Congenital Corneal Staphyloma in an Asian Infant With Kabuki Syndrome Confirmed by a KMT2D Mutation.

Congenital Corneal Staphyloma in an Asian Infant With Kabuki Syndrome Confirmed by a KMT2D Mutation.

Diquat-induced central nervous system injury: serum multi-omics and zebrafish evidence for histidine-methylmalonate imbalance and neuroinflammation.

Diquat-induced central nervous system injury: serum multi-omics and zebrafish evidence for histidine-methylmalonate imbalance and neuroinflammation.

Congenital tarsal kink syndrome.

Congenital tarsal kink syndrome.

Refractive Results and Complications of Lensectomy in Simple Extreme Microphthalmos Cases.

Refractive Results and Complications of Lensectomy in Simple Extreme Microphthalmos Cases.