Anophthalmia Plus Syndrome
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Anophthalmia Plus Syndrome Overview

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What is the definition of Anophthalmia Plus Syndrome?
Anophthalmia plus syndrome (APS) is a very rare syndrome that involves malformations in multiple organs of the body. The most common findings in affected individuals are anophthalmia (absence of one or both eyes) or severe microphthalmia (abnormally small eyes), and cleft lip and/or cleft palate. Other findings may include wide-set eyes (hypertelorism); low-set ears; narrowed or blocked nasal passages (choanal stenosis or atresia); sacral neural tube defect, midline abdominal wall defects, clinodactyly, eye colobomas and congenital glaucoma. It has been suggested that APS is inherited in an autosomal recessive manner, although the genetic cause has not yet been identified.
What are the alternative names for Anophthalmia Plus Syndrome?
  • Anophthalmia plus syndrome
  • Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder
  • Fryns anophthalmia syndrome
  • Fryns microphthalmia syndrome
  • Leichtman Wood Rohn syndrome
  • Microphthalmia with facial clefting
Who are the top Anophthalmia Plus Syndrome Local Doctors?
Distinguished in Anophthalmia Plus Syndrome
Dr. Thomas E. Johnson
Ophthalmology | General Surgery
Distinguished in Anophthalmia Plus Syndrome
Dr. Thomas E. Johnson
Ophthalmology | General Surgery
Referral may be required
900 Northwest 17th Street, 
Miami, FL 
Languages Spoken:
English, Spanish
See accepted insurances
Offers Telehealth

Thomas Johnson is a General Surgeon and an Ophthalmologist practicing medicine in Miami, Florida. Dr. Johnson is rated as a Distinguished provider by MediFind in the treatment of Anophthalmia Plus Syndrome. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Anophthalmia Plus Syndrome, Blocked Tear Duct, Eyelid Drooping, and Ptosis.

Distinguished in Anophthalmia Plus Syndrome
Dr. Brian C. Tse
General Surgery
Distinguished in Anophthalmia Plus Syndrome
Dr. Brian C. Tse
General Surgery
Referral may be required
3880 Tamiami Trail North, 
Naples, FL 
305-243-2020
Experience:
17+ years
Languages Spoken:
English, Spanish
See accepted insurances
Accepting New Patients
Offers Telehealth

Brian Tse is a General Surgeon practicing medicine in Naples, Florida. He has been practicing medicine for over 17 years. Dr. Tse is rated as a Distinguished provider by MediFind in the treatment of Anophthalmia Plus Syndrome. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Chalazion, Anophthalmia Plus Syndrome, Eyelid Bump, and Ptosis. Dr. Tse is currently accepting new patients.

 
 
 
 
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Elite in Anophthalmia Plus Syndrome
Elite in Anophthalmia Plus Syndrome
Referral may be required
Birmingham, ENG, GB 

Nicola Ragge practices practicing medicine in Birmingham, United Kingdom. Ms. Ragge is rated as an Elite expert by MediFind in the treatment of Anophthalmia Plus Syndrome. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Microphthalmia, Anophthalmia Plus Syndrome, Coloboma, and Oculofaciocardiodental Syndrome.

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What are the latest Anophthalmia Plus Syndrome Clinical Trials?
Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma ( MAC)
Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma ( MAC)
Enrollment Status: Recruiting
Publish Date: June 18, 2026

Background: \- Uveal coloboma is a condition where the eye does not form normally. It occurs early in the fetus s development during pregnancy. It can lead to different kinds of eye problems, including blindness. Uveal coloboma is part of a spectrum of developmental eye conditions that include anophthalmia and microphthalmia, typically referred to as MAC. Several genes have been linked to MAC, but the cause o...

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Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions
Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions
Enrollment Status: Recruiting
Publish Date: May 28, 2026

Objective: The objective of this study is to identify genetic causes of inherited eye conditions through whole exome or whole genome sequencing (referred to as exome sequencing and genome sequencing in the remainder of the document). This includes identifying mutations in known genes or novel genes for recognized conditions, as well as identifying mutations in novel genes for previously uncharacterized genet...

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center