Differential Contribution of Fraser Syndrome and Anophthalmos: 4 Cases and Review of the Literature

   

Hassane Amadou Bouba Traore¹*, Moctar Issiaka², Laminou Laouali³, Abba Kaka Yakoura⁴ and Abdou Amza⁵

^1*Faculty of Health Sciences, Dan Dicko Dan Koulodo University of Maradi, Ophthalmology Department, Maradi Regional Hospital, Niger 

²Makkah Eye Hospital, Maradi, Niger

³Faculty of Health Sciences, André Saliffou University, Zinder, Ophthalmology Department, Zinder National Hospital, Niger

⁴Faculty of Health Sciences, AbdouMoumouni University, Niamey, Ophthalmology Department, Niamey National Hospital, Niger

⁵Faculty of Health Sciences, Abdou Moumouni University, Niamey, Ophthalmology Department, Amirou Boubacar Diallo National Hospital, Niamey, Niger

^*Corresponding author: Dr Hassane Amadou Bouba Traoré, Faculty of Health Sciences, Dan Dicko Dan Koulodo University of Maradi, Ophthalmology Department, Maradi Regional Hospital, Niger 

Citation: Bouba Traore HA, Issiaka M, Laouali L, Yakoura AK, Amza A. (2023) Differential Contribution Of Fraser Syndrome And Anophthalmos: 4 Cases And Review Of The Literature. Adv Clin Med Res. 5(1):1-11.

Received:  November 21,  2023 | Published: January 13, 2024

Copyright^© 2024 genesis pub by Traore HAB, et al. CC BY-NC-ND 4.0 DEED. This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives 4.0 International License., This allows others distribute, remix, tweak, and build upon the work, even commercially, as long as they credit the authors for the original creation.

DOI: https://doi.org/10.52793/ACMR.2024.5(1)-74

 

Abstract

 Fraser syndrome is an autosomal recessive genetic malformation. Diagnosis is established by the presence of at least two major and one minor criteria, or one major and four minor criteria. Congenital anophthalmia is the clinical absence of the eye at birth. It results from the absence of development or regression of the primary optic vesicle during embryonic life; it may be isolated or associated with other congenital malformations, and its management requires a multidisciplinary approach.

It is a rare and extremely serious pathology, due to the degree of impairment of visual function. We decided to use two (2) cases of Fraser syndrome two (2) cases of isolated exophthalmia recorded in our ophthalmology unit to carry out a prospective, cross-sectional observational study to provide a differential approach these two entities and to review the literature through this clinical observation.

Keywords

Fraser syndrome; Anophthalmos: Syndactyly: Cryptophthalmos

 Introduction

Fraser syndrome was first described by George R. Fraser in 1962 as an autosomal recessive genetic malformation [1]. Diagnostic criteria are clinical, and include major criteria: cryptophthalmia, syndactyly, genital anomaly. And minor criteria: abnormalities of the ears, nose, larynx and/or palate, skeletal anomalies, umbilical hernias, renal agenesis, and mental retardation in survivors [2]. Congenital anophthalmia is the complete absence of the eye due to defective formation of the optic vesicle during the early stages of gestation [1]. The aim of this paper is to explain the difficulty of managing these pathologies, including the severity of their occurrence, to demonstrate the need for multidisciplinary management and, finally, to review the literature.

Methodology

This was a prospective, cross-sectional observational study covering the period from March 2021 to October 2023, or 33 months of data collected in our ophthalmology unit at the Maradi regional hospital. Our data collection technique was based on consultation of the register of patients followed up and seen in consultation for Fraser syndrome or isolated anophthalmia with no organic cause found.

Case Reports

Clinical observation 1:

A 15-day-old male neonate was referred to the ophthalmology department of the Maradi regional hospital for a poly malformities syndrome with complete bilateral occlusion of the eyelids. The pregnancy was spontaneous and unattended, with no evidence of drug intake or exposure to radiation by the mother during pregnancy.

The pregnancy was carried to term, and the delivery was carried out at home, vaginally, without complication. The newborn was predominantly breast-feeding. The mother was 22 years old and the father 31, all in apparent good health. he was the second of two siblings, the eldest 24 months old, in apparent good health with no malformative anomalies. On admission, the newborn was reactive, with good suction, well coloured, and weighed 3200g, with a head circumference of 34cm and a heel of 50cm.Physical examination to confirm occlusion complete level two eyes (Figure  1). Bidigital palpation noted the presence of an eyeball under the skin tissue, an elongated skull with part of the forehead invaded by hair, the root of the nose was depressed, the thoracic limbs showed a shape anomaly, syndactyly of the 3rd and 4th fingers (Figure 2), as did the pelvic limb, syndactyly of the 2nd and 3rd toes (Figure3). Elsewhere, other structures appeared normal.

Figure 1: Complete bilateral occlusion of the eyelids (observation 1).