The authors report two cases of congenital retrobulbar cyst or large peripapillary staphyloma with alcoholic mothers. In the first case, a 53-day-old newborn was referred for evaluation of microphthalmia in her left eye. Ophthalmic examination showed microcornea, microphthalmia, and an abnormally enlarged optic disc with an excavation in her left eye. Imaging revealed the presence of a cystic lesion in her left orbit that seemed to be communicated with the vitreous cavity. She did not have chromosomal abnormality. In the second case, a large peripapillary staphyloma was detected in the right eye of a 7-month-old newborn. The mother of each patient was an alcoholic. Retrobulbar cystic lesion or peripapillary staphyloma could be considered to be a series of abnormalities caused by the degree of the failure of the optic cup. Effects of each mother’s alcohol intake on the development of the eye, especially the closure of the optic cup, is to be further investigated.
From the Department of Ophthalmology, Wakayama Medical University, Wakayama, Japan.
The authors have no financial or proprietary interest in the materials presented herein.
Address correspondence to Ai Kitano, MD, Department of Ophthalmology, Wakayama Medical University, 811-1 Kimiidera, Wakayama, 641-0012, Japan.
Received: December 10, 2008
Accepted: September 02, 2009
Posted Online: May 21, 2010
Failure of the optic cup during early pregnancy causes various ocular anomalies, depending on the degree of the failure. Congenital orbital cyst, peripapillary staphyloma, or coloboma occurs in association with or without microphthalmia.1–9 The exact causes of such developmental anomalies are unknown except for chromosomal abnormalities. We report a case of congenital microphthalmia associated with retrobulbar cystic lesion and a case of large peripapillary staphyloma, both born to an alcoholic mother.
A 53-day-old newborn was referred to an ophthalmic physician for evaluation of microphthalmia in her left eye (Fig. 1). She was born at full term and weighed 3,660 grams at birth. Her Apgar score was 8 at 1 minute and 10 at 5 minutes after birth.
Figure 1. Microcornea Is Observed in the Left Eye. Horizontal Diameter of the Cornea Is 9.5 mm in Her Right Eye and 8.0 mm in Her Left Eye. Examination Does not Detect Abnormality in the Right Fundus (A), Whereas Large Optic Nerve Head with a Excavation Is Seen in the Left Fundus (B). (C) Retinal Vessels Around the Macula in the Affected Eye Exhibit an Abnormal Net-Like Appearance.
Ophthalmic examination showed microcornea, microphthalmia, and an abnormally enlarged optic disc with an excavation in her left eye. B-scan echographic examination and computed tomography revealed the presence of a cystic lesion in her left orbit. The lesion seemed to communicate with the vitreous cavity. No obvious morphological anomaly was detected in her brain. She did not have chromosomal abnormality.
The parents of the patient had no family history of ocular anomalies. Her mother drank liquor abundantly (approximately 200 mL of ethanol) every day until she recognized her pregnancy (until approximately 2 months of pregnancy). She also continued to smoke until 4 months of pregnancy. She did not have a history of radiation exposure. The patient had no systemic abnormalities.
Slit-lamp examination showed microcornea in the patient’s left eye. The diameter of the cornea was 9.5 mm in her right eye and 8.0 mm in her left eye. Iris pigmentation in her left eye was less compared with that in her right eye. Opacification was not seen in her lens and vitreous. Light reflex was impaired in her left eye. Eye movement was not able to be evaluated. A mode echographic examination revealed an axial length of 18.17 mm in her right eye and 16.45 mm in her left eye. The refractive error was spherical −0.5 diopter and cylindrical −1.0 diopter (axis 70) in her right eye and spherical +8.5 diopter and cylindrical −8.5 diopter (axis 160) in her left eye.
Ocular fundus examination revealed no abnormalities in her right eye. In the left eye, a large and deep excavation of the optic nerve head was appreciated (Fig. 2). The macula was displaced toward the optic disc. B-scan echographic examination detected a cystic lesion behind the left globe. Tube-like communication between the vitreous cavity and the cyst was observed in (or near) the optic nerve head. This communication was further observed on three-dimensional echographic examination. Retinal vessels around the macula in the affected eye exhibited an abnormal net-like appearance (Fig. 2C).
Figure 2. (A) B-Mode Echographic Examination Reveals a Cystic Lesion (asterisk) Behind the Eye Globe (star). (B and C) a Communication (arrow) Is Detected Between Vitreous Cavity (star) and the Cyst (asterisk). (D) This Communication Is Further Observed by Using Three-Dimensional Echography.
X-ray computed tomography (CT) and a magnetic resonance imaging examination showed a cystic lesion. The density in X-ray CT and intensity in magnetic resonance imaging were similar to those of the vitreous humor (Figs. 3 and 4).
Figure 3. (A) X-Ray Computed Tomography Shows a Cystic Lesion Occupying the Left Orbit. Density in the Cyst Seems Similar to that in the Vitreous Cavity. (B) T1- or (C) T2-Enhanced Magnetic Resonance Imaging also Revealed that Intensity in the Cyst Seems Similar to that in the Vitreous Cavity.
Figure 4. Case 2 Shows Normal-Sized (A) Right and (B) Left Eyes. A Large Optic Staphyloma with an Excavation Is Seen in the Right Fundus (C), Whereas No Abnormality Is Seen in the Left Fundus (D).
A 7-month-old infant was referred for examination of esotropia in her right eye. She was born at full term and weighed 3,450 grams at birth. Her Apgar score was 8 at 1 minute and 10 at 10 minutes after birth. Ophthalmic examination showed normal-sized eyes with an abnormally enlarged optic disc and excavation in her right eye. B-scan echographic examination and CT revealed the presence of a large peripapillary staphyloma in her right eye (Figs. 4 and 5). No obvious morphological anomaly was detected in her brain or other organs. She did not have chromosomal abnormality.
Figure 5. (A) X-Ray Computed Tomography (CT) Shows a Staphylomatous Lesion of the Optic Nerve Head. (B) T1- or (C and D) T2-Enhanced Magnetic Resonance Imaging (mri) also Revealed the Lesion Is Occupied with Aqueous Humor. (E) Three-Dimensional Echograph Shows the Shape of the Opening of the Staphyloma.
The parents of the patient had no family history of ocular anomalies. Her mother drank liquor abundantly (approximately 150 mL of ethanol) every day until she recognized her pregnancy (until approximately 2 months of pregnancy). She did not have a history of radiation exposure.
Examinations showed normal-sized eyes. Opacification was not seen in her lens and vitreous. Light reflex was impaired in her left eye. Eye movement was not able to be evaluated. Ocular fundus examination revealed a large excavation in the posterior pole without an obvious fovea in her right eye. B-mode echography showed an excavated staphyloma-like structure. Neither chromatin nor systemic abnormality was detected.
This report suggests the relationship between development of congenital microphthalmia with retrobulbar cyst of the optic nerve or large peripapillary posterior staphyloma and alcohol intake of the mother during early pregnancy. The mothers of each patient were not relatives.
At approximately day 30 of gestation, the ventral part of the optic vesicle and stalk invaginates and forms a double-layered optic cup. Fusion of the edges of this fissure starts at approximately 5 weeks, proceeds anteriorly toward the rim of the optic cup and posteriorly along the optic stalk, and is completed by 7 weeks. Failure of the fetal fissure to close results in the disorders of coloboma. Although the molecular mechanisms controlling these tissue events are largely unknown, alcoholism of the mother might be a cause. Eye manifestations in fetal alcohol syndrome are well documented.10 Microphthalmia can be differentiated into four groups11: pure microphthalmos, colobomatous microphthalmos, complicated microphthalmos associated with multiple ocular structure anomalies, and microphthalmos as a part of a syndrome.12 Because pure microphthalmos reportedly has normal intraocular structure, without histopathological observation we failed to examine whether the patient had normal structure in the affected eye.
On the other hand, a microphthalmia associated with a retrobulbar cystic lesion is considered to be colobomatous microphthalmos. The mechanism of the development of retrobulbar cyst includes failed closure of the embryonic fissure of the optic cup.13 Failed closure of the optic cup might result in lower intraocular pressure that potentially impairs the growth of the eyeball. Although in this type of cyst the retinal structure is inverted on the inner surface of the cyst, we failed to histologically examine the cyst. The presence of a communication route between the vitreous cavity and cyst further suggests that the current case was colobomatous microphthalmos.
The peripapillary staphyloma in the second case was also considered to be caused by the failed closure of the optic cup, and was thus a type of coloboma. Incomplete failure of the optic cup might cause intra-ocular pressure reduction and thus microphthalmia. Therefore, the conditions in both cases could be considered to be a series of abnormalities caused by the degree of failure of the optic cup. Effects of alcohol intake on the development of the eye, especially the closure of the optic cup, need to be further investigated.
- Weiss A, Martinez C, Greenwald M. Microphthalmos with cyst: clinical presentations and computed tomographic findings. J Pediatr Ophthalmol Strabismus. 1985;22:6–12.
- Lieb W, Rochels R, Gronemeyer U. Microphthalmos with colobomatous orbital cyst: clinical, histological, immunohistological, and electronmicroscopic findings. Br J Ophthalmol. 1990;74:59–62. doi:10.1136/bjo.74.1.59 [CrossRef]
- Wiggins RE, von Noorden GK, Boniuk M. Optic nerve coloboma with cyst: a case report and review. J Pediatr Ophthalmol Strabismus. 1991;28:274–277.
- Hayashi N, Repka MX, Ueno H, Iliff NT, Green WR. Congenital cystic eye: report of two cases and review of the literature. Surv Ophthalmol. 1999;44:173–179. doi:10.1016/S0039-6257(99)00084-3 [CrossRef]
- Sherman J, Bass SJ, George A, Noble KG, Nath S. Optic pit, microphthalmos and orbital cyst. Ophthalmic Paediatr Genet. 1988;9:131–133. doi:10.3109/13816818809031487 [CrossRef]
- Waring GO 3rd, Roth AM, Rodrigues MM. Clinicopathologic correlation of microphthalmos with cyst. Am J Ophthalmol. 1976;82:714–721.
- Yoshihara M, Ishizawa A, Sato K, Tamaki H. Bilateral microphthalmos with orbital cyst: case report. Neurol Med Chir (Tokyo). 1991;31:223–225. doi:10.2176/nmc.31.223 [CrossRef]
- Warburg M. Classification of microphthalmos and coloboma. J Med Genet. 1993;30:664–669. doi:10.1136/jmg.30.8.664 [CrossRef]
- Hornby S, Gilbert C. Orbital cyst and bilateral colobomatous microphthalmos. Br J Ophthalmol. 2008;92:1568–1569.
- Strömland K, Pinazo-Durán MD. Ophthalmic involvement in the fetal alcohol syndrome: clinical and animal model studies. Alcohol Alcohol. 2002;37:2–8.
- Duke-Elder S. Normal and abnormal development. Part 2. Congenital deformities. In: Duke-Elder S.System of Ophthalmology, vol. 3. London: Henry Kimpton; 1964:488–495.
- Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K. Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet. 2004;41:881–891. doi:10.1136/jmg.2004.025494 [CrossRef]
- Theodossiadis PG, Stringaris K, Papadopoulos V, Theodossiadis PG. Optic nerve cyst associated with optic disk pits. Graefes Arch Clin Exp Ophthalmol. 2005;243:718–720. doi:10.1007/s00417-004-1007-7 [CrossRef]