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Peters' Anomaly in Association with Ring 21 Chromosomal Abnormality
Peters' Anomaly in Association With Ring 21 Chromosomal Abnormality Gerhard W. Cibis, M.D., Joanne Waeltermann, M.D., and David J. Harris, M.D.
A white boy, born at the gestational age of 39 weeks, had Peters' anomaly in association with a ring 21 chromosomal abnormality. Dysmorphic features included low-set ears, hypoplastic mandible, delicate, dry skin, narrow arched palate, wide spaced nipples and hypotonia. He also had a cloudy right cornea. Chromosomal analysis disclosed a ring 21 defect. The cornea had a paracentral white opacity with a loss of posterior stroma and no adherence of the iris to the leukoma. Intraocular pressure, the lens, and the posterior pole were normal. PETERS' ANOMALY is the absence of the corneal endothelium with a thinning of the cornea and a central or paracentral opacity. It is a form of neurocristopathy as described by Beauchamp and Knepper! and consists of a stromal opacity with loss of corneal substance. The leukoma may have adherent iris strands and there may be lenticular involvement. We treated an infant with Peters' anomaly associated with a ring 21 chromosomal abnormality.
a cloudy right cornea. A chromosomal analysis disclosed a ring 21 defect (Fig. 1). At 72 hours of age he underwent an examination under anesthesia to rule out glaucoma. The cornea had a paracentral white opacity (Fig. 2) with a loss of posterior stroma and no adherence of the iris to the leukoma. The external findings included long and slightly curled eyelashes. Intraocular pressure, the lens, and posterior pole were normal. Peters' anomaly was diagnosed. The child's general development was marked by failure to thrive. Three weeks after birth the cornea had not cleared and an examination under anesthesia again gave a normal intraocular pressure. When he was 3 months of age, his vision was not central, steady, or maintained but the opacity was judged to be clearing and a minimal patching regimen was begun. When he was 9 months old, the cornea was more opaque and the possibility of corneal transplant was offered to the parents. Because of the child's continuing failure to thrive and limited overall prognosis the parents declined and conservative management was continued.
Case Report
Discussion
The infant, a white boy, was born at the gestational age of 39 weeks. The pregnancy and delivery were uneventful. The infant was noted to be small for gestational age with a birthweight of 2,375 g. Dysmorphic features included low-set ears, hypoplastic mandible, delicate, dry skin, narrow arched palate, widely spaced nipples, and hypotonia. He also had
Peters' anomaly is inherited as a recessive trait" or is associated with chromosome 4 abnormalities." Systemic abnormalities include congenital heart defects, hydrocephalus, and renal dysgenesis.! Associated ophthalmic findings are glaucoma, congenital aphakia, coloboma, microphthalmos, cornea plana, sclerocornea, and persistent hyperplastic primary vitreous. Gericke and associates' described the ophthalmic findings in ring 21 as including sunken eyes, downward slanting fissures, strabismus, anomalies of the pupils and lens, and Chediak-Higashi syndrome. Palmer and associates" added microphthalmos, eyelid cysts, epicanthal folds, and sparse eyebrows to the known manifestations.
Accepted for publication Aug. 16, 1985. From the Children's Mercy Hospital, Kansas City, Missouri. Reprint requests to Gerhard W. Cibis, M.D., 4620 J. C. Nichols Parkway, Suite 421, Kansas City, MO 64112.
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Our case demonstrated what we believe to be a previously unreported association between Peters' anomaly and ring 21 chromosomal abnormality. Our patient had the systemic phenotype typical of the ring 21 syndrome. These patients also have renal, nail, neck, and genital anomalies. They are mentally retarded and
Fig. 2 (Cibis, Waeltermann, and Harris). The right cornea with a stable paracentral leukoma and posterior corneal thinning.
j.
Fig. 1 (Cibis, Waeltermann, and Harris). The ring 21 chromosome found in our subject's karyotype.
Ii
22 may have a limited life span although one subject lived into adulthood.
References 1. Beauchamp, G. R., and Knepper, P. A.: Role of the neural crest in anterior segment development and disease. }. Pediatr. Ophthalmol. Strabismus 21:209, 1984. 2. Alkemade, P. P. H.: Dysgenesis Mesodermalis of the Iris and the Cornea. Assen, Van Gorcum and Co., 1969, p. 116. 3. Hittner, H. M., Ferrell, R. E., Antoszyk, J. H., and Kretzler, F. L.: Autosomal dominant anterior segment dysgenesis with variable expressivityprobable linkage, to MNS, blood group on chromosome 4. Pediatr. Res. 15:56, 1981. 4; Townsend, W. M., Font, R. 1., and Zimmerman, 1. E.: Congenital corneal leukomas. 3. Histopathologic findings in 13 eyes with noncentral defect in Descemet's membrane. Am. J. Ophthalmol. 77:400, 1974. 5. Gericke, G. S., Steyn, M., Retief, A. E., Thorn, J. c., and Van Niekerk, W. A.: Clinical and cytogenetic aspects of the 21 deletion syndrome. S. Afr. Med. J. 49:959, 1975. 6. Palmer, C. G., Hodes, M. E., Reed, T., and Kojetin, J.: Four new cases of ring 21 and 22 including familial transmission of ring 21. J. Med. Genet. 14:54, 1977.
A white boy, born at the gestational age of 39 weeks, had Peters' anomaly in association with a ring 21 chromosomal abnormality. Dysmorphic features included low-set ears, hypoplastic mandible, delicate, dry skin, narrow arched palate, wide spaced nipples and hypotonia. He also had a cloudy right cornea. Chromosomal analysis disclosed a ring 21 defect. The cornea had a paracentral white opacity with a loss of posterior stroma and no adherence of the iris to the leukoma. Intraocular pressure, the lens, and the posterior pole were normal. PETERS' ANOMALY is the absence of the corneal endothelium with a thinning of the cornea and a central or paracentral opacity. It is a form of neurocristopathy as described by Beauchamp and Knepper! and consists of a stromal opacity with loss of corneal substance. The leukoma may have adherent iris strands and there may be lenticular involvement. We treated an infant with Peters' anomaly associated with a ring 21 chromosomal abnormality.
a cloudy right cornea. A chromosomal analysis disclosed a ring 21 defect (Fig. 1). At 72 hours of age he underwent an examination under anesthesia to rule out glaucoma. The cornea had a paracentral white opacity (Fig. 2) with a loss of posterior stroma and no adherence of the iris to the leukoma. The external findings included long and slightly curled eyelashes. Intraocular pressure, the lens, and posterior pole were normal. Peters' anomaly was diagnosed. The child's general development was marked by failure to thrive. Three weeks after birth the cornea had not cleared and an examination under anesthesia again gave a normal intraocular pressure. When he was 3 months of age, his vision was not central, steady, or maintained but the opacity was judged to be clearing and a minimal patching regimen was begun. When he was 9 months old, the cornea was more opaque and the possibility of corneal transplant was offered to the parents. Because of the child's continuing failure to thrive and limited overall prognosis the parents declined and conservative management was continued.
Case Report
Discussion
The infant, a white boy, was born at the gestational age of 39 weeks. The pregnancy and delivery were uneventful. The infant was noted to be small for gestational age with a birthweight of 2,375 g. Dysmorphic features included low-set ears, hypoplastic mandible, delicate, dry skin, narrow arched palate, widely spaced nipples, and hypotonia. He also had
Peters' anomaly is inherited as a recessive trait" or is associated with chromosome 4 abnormalities." Systemic abnormalities include congenital heart defects, hydrocephalus, and renal dysgenesis.! Associated ophthalmic findings are glaucoma, congenital aphakia, coloboma, microphthalmos, cornea plana, sclerocornea, and persistent hyperplastic primary vitreous. Gericke and associates' described the ophthalmic findings in ring 21 as including sunken eyes, downward slanting fissures, strabismus, anomalies of the pupils and lens, and Chediak-Higashi syndrome. Palmer and associates" added microphthalmos, eyelid cysts, epicanthal folds, and sparse eyebrows to the known manifestations.
Accepted for publication Aug. 16, 1985. From the Children's Mercy Hospital, Kansas City, Missouri. Reprint requests to Gerhard W. Cibis, M.D., 4620 J. C. Nichols Parkway, Suite 421, Kansas City, MO 64112.
©AMERICAN JOURNAL OF OPHTHALMOLOGY
100:733-734,
NOVEMBER,
1985
733
734
n
,':.1 "
1:(
lit It
,,'
13
19
I .. 7
14
,. 20
II 'I
3
2
1
6
November, 1985
AMERICAN JOURNAL OF OPIDHALMOLOGY
8
15
:.t 9
J•
XV
.
5
4
10
'I' 16
•• ." '·1 n " 12
:t 17
•• 21
Our case demonstrated what we believe to be a previously unreported association between Peters' anomaly and ring 21 chromosomal abnormality. Our patient had the systemic phenotype typical of the ring 21 syndrome. These patients also have renal, nail, neck, and genital anomalies. They are mentally retarded and
Fig. 2 (Cibis, Waeltermann, and Harris). The right cornea with a stable paracentral leukoma and posterior corneal thinning.
j.
Fig. 1 (Cibis, Waeltermann, and Harris). The ring 21 chromosome found in our subject's karyotype.
Ii
22 may have a limited life span although one subject lived into adulthood.
References 1. Beauchamp, G. R., and Knepper, P. A.: Role of the neural crest in anterior segment development and disease. }. Pediatr. Ophthalmol. Strabismus 21:209, 1984. 2. Alkemade, P. P. H.: Dysgenesis Mesodermalis of the Iris and the Cornea. Assen, Van Gorcum and Co., 1969, p. 116. 3. Hittner, H. M., Ferrell, R. E., Antoszyk, J. H., and Kretzler, F. L.: Autosomal dominant anterior segment dysgenesis with variable expressivityprobable linkage, to MNS, blood group on chromosome 4. Pediatr. Res. 15:56, 1981. 4; Townsend, W. M., Font, R. 1., and Zimmerman, 1. E.: Congenital corneal leukomas. 3. Histopathologic findings in 13 eyes with noncentral defect in Descemet's membrane. Am. J. Ophthalmol. 77:400, 1974. 5. Gericke, G. S., Steyn, M., Retief, A. E., Thorn, J. c., and Van Niekerk, W. A.: Clinical and cytogenetic aspects of the 21 deletion syndrome. S. Afr. Med. J. 49:959, 1975. 6. Palmer, C. G., Hodes, M. E., Reed, T., and Kojetin, J.: Four new cases of ring 21 and 22 including familial transmission of ring 21. J. Med. Genet. 14:54, 1977.