Congenital Anophtalmia: Two Cases Report

Case Report

Austin J Clin Ophthalmol. 2021; 8(1): 1113.

Congenital Anophtalmia: Two Cases Report

Hassan M*, Ahmed B, Chraibi F, Abdellaoui M and Benatiya D

Department of Ophthalmology, Faculty of Medicine and Pharmacy of Fez, Morocco

*Corresponding author: Moutei Hassan, Department of Ophthalmology, Faculty of Medicine and Pharmacy of Fez, Morocco

Received: January 21, 2021; Accepted: February 09, 2021; Published: February 16, 2021


Anophthalmia is a rare condition that is estimated to have an incidence of 1 in 10 000 live births. These ocular malformations may be unilateral or bilateral, and may be isolated or occur with other malformations as part of a syndrome. The etiology is heterogeneous and remains unknown. Prenatal diagnosis, which is now available, allows for the early diagnosis of these diseases and the identification of other malformations or signs that may prejudge the prognosis, which must be carefully explained to parents. The prognosis is variable and depends on severity, associated abnormalities and the underlying genetic cause. Reported cases of anophthalmia generally represent severe microphthalmia; true primary anophthalmia is rarely compatible with life secondary to associated brain abnormalities.


Congenital anophthalmia is defined by the absence of formation or regression of the primary optic vesicle. It is one of the main causes of congenital blindness and represents 3 to 11% of blindness in children [1]. Anophthalmia is a rare congenital condition, less than one case in 10,000 births. It is most often unilateral and usually occurs as a result of a genetic syndrome, maternal infection, teratogenic exposure or vitamin deficiency. Most cases are sporadic, but an autosomal recessive form has been described.

Diagnosis is clinical, obtained by ophthalmological examination showing the complete absence of the globe or decreased ocular size relative to the contralateral eye. It can be isolated, but is frequently associated with other oculo-orbital, cranioencephalic or even general malformations. Consequently, in all cases of congenital anophthalmia, it is important to conduct an exhaustive clinical, biological and imaging assessment in order to diagnose the associated lesions, but above all to establish the diagnosis, to plan adequate management and to determine prognostic parameters. Differential diagnoses include cryptophthalmos (or ablephary), cyclopia (also cyclocephaly or synophthalmia) congenital cystic eye and extreme cases of microphthalmia.

It must be treated early; it is heavy and often deceiving. They represent about 1.7 to 1.8% of the cases of reconstructive surgery in plastic surgery and ocular prosthesis laboratories [2]. It requires the use of conformators with an increasing size, orbital expansion techniques using pneumatic prostheses or bone surgery.


We report two observations referred to the Department of Ophthalmology at the University Hospital Center of Fez for treatment between 2017-2019. The study was conducted in accordance with the principles of the Declaration of Helsinki.


Case 1: An 8-week-old infant, seen in consultation for missing eyeballs. The mother was primiparous at 37 years of age, the pregnancies were normal; their births were term births (38 weeks), spontaneous and eutocic. The mother had no reported taking medication, alcohol, tobacco, or drugs during pregnancy.

The initial ophthalmic exam revealed small palpebral fissures with absence of both eyes and other eye structures. Besides the congenital anophthalmia finding, the patients had no other physical manifestations of malformations, and systemic pathologies were discarded at birth (Figure 1). As a history, prenatal laboratory tests revealed no primary toxoplasmic or rubella infections during pregnancy. The mother was previously immunized. No prenatal ultrasound was performed.