|Year : 2021 | Volume
| Issue : 3 | Page : 304-306
A case of unilateral presentation of peters' anomaly with fundus involvement
Mamta Agrawal, Reshma Ramakrishnan, Ayushi Choudhary, Aishwarya Singh Raghuvanshi, Purva Deore
Department of Ophthalmology, MGM institute of Health Sciences, Navi Mumbai, Maharashtra, India
|Date of Submission||20-Nov-2020|
|Date of Decision||03-May-2021|
|Date of Acceptance||02-Jun-2021|
|Date of Web Publication||09-Sep-2021|
Dr. Mamta Agrawal
Alaknanda Building, D-3/304, Lokgram, Netivali Road, Kalyan East, Thane, Maharashtra
Source of Support: None, Conflict of Interest: None
Peters' anomaly is a rare congenital malformation of anterior segment dysgenesis, in which abnormal cleavage of anterior chamber occurs. A 22-month-old male was brought by his parents with a history of whitish discoloration in the right eye since birth. The child was born by full-term lower segment cesarean section, with breech presentation. His birth weight was 3 kg and he did not cry immediately. The patient was the first child of nonconsanguineous marriage. The child was diagnosed with hypoxic–ischemic encephalopathy at birth. On TORCH profile, he was found to be cytomegalovirus (CMV) immunoglobulin G positive. The mother gave a history of neonatal intensive care unit admission on the 3rd day of birth for seizures. On ophthalmic examination, the child followed torchlight and had nystagmus in horizontal gaze in both eyes and exophoria in the right eye. Slit-lamp examination of the right eye revealed microcornea, leucomatous corneal opacity measuring 2.5 mm × 3.5 mm involving the central cornea, and iridocorneal touch, however, peripheral cornea was clear. On fundus examination, a large coloboma involving the optic nerve head was noted in the right eye. Left eye anterior segment and fundus was normal. Intraocular pressure in both eyes was 14 mmHg using Perkins tonometer. Electroencephalography suggested right occipital lobe dysfunction. Diagnosis of unilateral Peters' anomaly type I with optic disc coloboma in the right eye with CMV was made. The parents were counseled about the condition, and 6-monthly ophthalmic checkup was advised.
Keywords: Cytomegalovirus, optic disc coloboma, Peters' anomaly
|How to cite this article:|
Agrawal M, Ramakrishnan R, Choudhary A, Raghuvanshi AS, Deore P. A case of unilateral presentation of peters' anomaly with fundus involvement. TNOA J Ophthalmic Sci Res 2021;59:304-6
|How to cite this URL:|
Agrawal M, Ramakrishnan R, Choudhary A, Raghuvanshi AS, Deore P. A case of unilateral presentation of peters' anomaly with fundus involvement. TNOA J Ophthalmic Sci Res [serial online] 2021 [cited 2021 Sep 26];59:304-6. Available from: https://www.tnoajosr.com/text.asp?2021/59/3/304/325724
| Introduction|| |
Dr. Alfred Peters first described Peters' anomaly in 1906. It is a rare congenital dysgenesis of the anterior segment which clinically presents with corneal opacity, with defects in posterior stroma, Descemet's membrane, and endothelium. It is sporadic in most of the cases, but it can show recessive or dominant inheritance in some cases. It is associated with PAX6 mutations. Besides genetics, infectious, traumatic, and toxic causes have also been reported. It is clinically divided into two types: type 1 includes corneal opacity with iridocorneal adhesions with or without lens involvement, whereas type 2 includes lens abnormalities (cataract) or corneolenticular adhesions. Peters' anomaly can be isolated identity or may be associated with systemic features such as developmental delay, craniofacial abnormalities, congenital cardiac defects, skeletal defects, and cleft lip or palate.
| Case Report|| |
A 22-month-old male was brought by his parents with a history of whitish discoloration in the right eye since birth. The child was born by full-term cesarean section, with breech presentation. His birth weight was 3 kg and he did not cry immediately. The patient was the first child of nonconsanguineous marriage. The child was diagnosed with hypoxic–ischemic encephalopathy at birth. On TORCH profile, he was found to be cytomegalovirus (CMV) immunoglobulin G positive. He was also diagnosed to have a global developmental delay. The mother gave a history of neonatal intensive care unit admission on the 3rd day of birth for seizures. On ophthalmic examination, the child followed torchlight and had nystagmus in horizontal gaze in both eyes and exophoria in the right eye. Slit-lamp examination of the right eye revealed microcornea, leucomatous corneal opacity measuring 2.5 mm × 3.5 mm involving the central cornea [Figure 1], and iridocorneal touch, however, peripheral cornea was clear. On fundus examination, a large coloboma involving the optic nerve head was noted in the right eye [Figure 2]. Left eye anterior segment [Figure 3] and fundus was normal [Figure 4]. Intraocular pressure in both eyes was 14 mmHg using Perkins tonometer. Pediatric reference was done where electroencephalography suggested right occipital lobe dysfunction. The patient had no craniofacial or skeletal abnormalities. Ear, nose, and throat (ENT) reference was also done for the child that was normal. The patient was diagnosed with unilateral Peters' anomaly type I with optic disc coloboma in the right eye with CMV. The parents were counseled about the condition, and 6-monthly ophthalmic checkup was advised. Genetic counseling was also done.
| Discussion|| |
Peters' anomaly is a disorder caused due to anterior segment dysgenesis. Anterior segment formation usually occurs around the 7th month of gestation. Any defect in neural crest migration or separation during this period can lead to anterior segment dysgenesis. Premature babies are more prone to get affected. Eighty percent of the cases are bilateral.
A variety of genes such as PAX6, PITX2, FOXC1, CYP1B1, MAF, and MYOC are been known to cause Peters' anomaly. Besides this, beta-1,3-galactosyltransferase-like gene mutation is known to cause Peters plus syndrome. Chromosomal abnormalities in chromosome 20, trisomy 13, and chromosome 11 also can cause Peters' anomaly. It can be sporadic, autosomal dominant, or recessive in inheritance. Peters' anomaly is rarely associated with CMV infection. CMV can cause ocular manifestations such as optic atrophy, microcornea, anophthalmia, chorioretinitis, Peters' anomaly, and coloboma. It is also associated commonly with central nervous system diseases causing seizures, microcephaly, mental retardation, cerebral palsy, and also sensorineural hearing loss. CMV infection can be detected in amniotic fluid after 20–21 weeks of gestation.
Peters' anomaly is of two types: type 1 includes corneal endothelium, Descemet's membrane, and iris defects whereas type 2 also has lens abnormalities. Peters' anomaly is common in males (56%) than females (44%). Type 1 Peters' anomaly is usually bilateral (67.2%) whereas type 2 is usually unilateral. Peters plus anomaly has ocular as well as systemic features such as short stature, cleft palate, sensory neural hearing loss, dysmorphic facies, cranial and skull abnormalities, and genitourinary abnormalities. It is noted that bilateral cases have a higher incidence of systemic associations as compared to unilateral cases. Besides the systemic features, Peters' anomaly is associated with other ocular manifestations such as glaucoma (most common), amblyopia, aniridia, microcornea, sclerocornea, iris coloboma, cataract, and iridocorneal endothelial syndrome. It can also be associated with Axenfeld's and Rieger's anomalies. Thus, any patient with Peters' anomaly needs a neonatologist reference for a complete systemic checkup, genetic evaluation, and genetic counseling.
Peters' anomaly due to the central opacity in the cornea affects the visual axis in an early age and thus leads to sensory deprivation amblyopia in newborns. If untreated, chances of developing strabismus are very high, especially in unilateral cases. Thus, to avoid this, it is extremely important to treat them as soon as possible (within the 1st year of life). Penetrating keratoplasty is the mode of management in such patients. The success rate varies from 22% to 83%, but type 1 has a lesser failure rate as compared to type 2. Complications such as graft rejection, graft infection, and glaucoma are common. Long-term follow-ups are necessary in these cases. Infants with cataract need to undergo phacoemulsification surgery. In some patients, peripheral (optical sector) iridectomy is done to achieve functional vision. Besides this, patients with small opacities can be benefited by pupil dilation and later can be followed up for surgery. A joint management by a pediatric ophthalmologist, glaucoma specialist, and cornea specialist is needed in such cases.
| Conclusion|| |
In our case, we noticed that though type 1 anomaly, it was unilateral. It was associated with CMV infection which rarely shows association with Peters' anomaly. Besides this, optic disc coloboma was also noticed which is an unusual finding. Thus, we conclude that though Peters anomaly occurs due to anterior segment dysgenesis, a thorough examination of the posterior segment should be done before operating such patients and neonatologist as well as ENT reference should be done.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]