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Condition

Anophthalmia Plus Syndrome

Symptoms, Doctors, Treatments, Research & More

Condition 101

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 ...

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What are the alternative names for Anophthalmia Plus Syndrome?

  • Fryns microphthalmia syndrome
  • Fryns anophthalmia syndrome
  • Microphthalmia with facial clefting
  • Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder
  • Leichtman Wood Rohn syndrome

What are the symptoms for Anophthalmia Plus Syndrome?

Anophthalmia plus syndrome (APS) may involve malformations in multiple organs of the body including the eyes, ears, nose, face, mouth, brain, sacral vertebrae, meninges (tissue that lines the outer part of the brain and spinal cord), abdominal wall, heart, digits (fingers and toes), and endocrine system. Based on the few cases reported in the literature, it appears that all affected individuals have had anophthalmia (absence of one or both eyes) and/or microphthalmia (abnormally small eyes). It has also been estimated that approximately 89% of affected individuals have had an oral-facial cleft (such as cleft lip and/or cleft palate). Other specific findings that have been reported in more than one affected individual include wide-set eyes (hypertelorism), low-set ears, choanal stenosis or atresia (narrowing or blockage of the nasal passages), sacral neural tube defect, midline abdominal wall defects, clinodactyly (abnormally bent or curved finger), eye colobomas, and congenital glaucoma. There have been other, additional abnormalities that have only been reported in single individuals.

How is Anophthalmia Plus Syndrome diagnosed?

A review of the available medical literature does not currently yield information about specific diagnostic criteria for anophthalmia plus syndrome (APS). Because APS is so rarely reported, specific diagnostic criteria may not exist. Anophthalmia and/or microphthalmia with oral-facial clefting occurs in a number of known syndromes; however, the other known syndromes typically have specific other features (such as limb abnormalities, deafness or other organ anomalies). A diagnosis of APS may be considered when an individual has the signs and symptoms most commonly reported in affected individuals, but other known syndromes with overlapping features have been ruled out.

Latest Research

Latest Advance
Study
  • Condition: Anophthalmic Socket Contracture, Orbital Implant Exposure, Ocular Surface Burn, or Cicatricial Entropion Repair
  • Journal: Ophthalmic plastic and reconstructive surgery
  • Treatment Used: Umbilical Amnion for Conjunctival Socket, Fornix, and Eyelid Margin Reconstruction
  • Number of Patients: 21
  • Published —
This study tested the safety and efficacy of using umbilical amnion to improve clinical outcomes in patients with anophthalmic socket contracture, orbital implant exposure, ocular surface burn, or cicatricial entropion repair that are undergoing conjunctival socket, fornix, and eyelid margin reconstruction.
Latest Advance
Study
  • Condition: Exposed Hydroxyapatite (HA) Orbital Implants
  • Journal: Korean journal of ophthalmology : KJO
  • Treatment Used: Synthetic Dura Substitute
  • Number of Patients: 7
  • Published —
This study described cases of exposed hydroxyapatite (HA) implants wrapped with the synthetic dura substitute Neuro-Patch treated via simple Neuro-Patch removal.
Latest Advance
Study
  • Condition: Volume Replacement in the Eye Socket
  • Journal: Arquivos brasileiros de oftalmologia
  • Treatment Used: Fat Graft
  • Number of Patients: 62
  • Published —
In this study, researchers evaluated the effects of using a fat graft to fill in the volume of empty eye sockets.
Latest Advance
Study
  • Condition: Congenital anophthalmia
  • Journal: Eye (London, England)
  • Treatment Used: Cosmetic customized prostheses and dermis fat graft
  • Number of Patients: 22
  • Published —
This study evaluated the outcomes of progressively enlarging costmetic customized prostheses early after birth followed by dermis fat graft in children with congenital anophthalmia.

Clinical Trials

There are no recent clinical trials available for this condition. Please check back because new trials are being conducted frequently.