A CASE OF PRIMARY BILATERAL ANOPHTHALMIA (Clinical and Histological Report)

Abstract

I1HE subject of this report, a male child, was born on November 13, 1935, at MIarch, Cambridgeshire. No case of developmental abnormality had occurred in the family of either parent, and there was no consanguinity. Pregnancy and labour had been normal. The mother, a primipara, aged 31 years, was one of a family of six. Her eldest brother is healthy; an elder brother and sister survived only a few hours; whilst two younger sisters are alive and well. The elder of these has produced one healthy child; the younger's first child died in infancy; a second survives and is normal. Her father died at the age of 62 years; her mother is alive and well. One maternal aunt died in a mental home. The father, aged 37 years, had been married twice previously. There were no issue by his first wife, but one healthy child by the second. He was the eldest of a family of six, all of whom survive and are normal except the third who died in infancy. One of his brothers has a healthy child. His father is alive and well, but his mother had died two years previously. A normal child has since been born. Dr. J. A. Hislop, of March, invited one of us (E.R.) to see the infant when thirty hours old. It appeared to be normal in every respect apart from the entire absence of eyes. The birth weight was M lbs. 10 ozs. The eyelids were normal and the lacrymal puncta present. The palpebral apertures just admitted the tip of the little finger. Two smooth conjunctival sacs were explored but no vestige of a globe could be detected. The orbital cavities seemed to be smaller than normal. The child progressed normally for a few days but later failed to put on weight, which on the tenth day was only 6j lbs. Breast feeding was only possible for the first week. It was admitted to Addenbrooke's Hospital, Cambridge, under the care of Dr. Leslie Cole, and gained weight steadily until shortly before its death (January 8, 1936) from bronchopneumonia. A post-mortem was performed and the brain and orbits removed for microscopic examination. The only abnormal post-mortem findings, apart from those relating to the visual apparatus, were a patent foramen ovale (which measured 2 by 3 centimetres), and bronchopneumonic changes in the lungs. The thymus was normal in size and the testicles had descended to the scrotum. 353 copyright.

A Contribution to the Study of Anophthalmia With Description of a Case

“…Of cases in which, with or without a cyst, aggregations of pigmented tissue have been observed microscopically I can find only 14 inf the relevant literature: 10 human-Haab (1.881),-Zimmermann (1893), van Duyse (1899), Bietti (1901), Hanke (1904), Cecchetto (1920), Triepel (1921), Gallemearts (1924), Recordon and, Griffiths (1938), Whitnall and Norman (1940); and 4 in animals-de Bary (1887) and Albrecht (1.895) in the calf, 'Collins and Parsons (1903) in the chick,' and the Chases (1941) in mice. Some similar cases are cited by other authors 'also, but from clinical examination only.…”

The fate of the oculomotor system in clinical bilateral anophthalmia

“…Postmortem studies of anophthalmic cases describe abnormal tissue in the orbit. One such case, a male infant who died at two months, had “no vestige of a globe” detectable macroscopically, but microscopic examination revealed a minute nodule of fibrous tissue in each orbit that contained no recognizable cell structure and was pigmented (Recordon & Griffiths, 1938). Similar nodules had been previously described in at least one of the orbits of three other cases (van Duyse, 1899; Hanke, 1904; Gallemaerts, 1924); cited in Recordon and Griffiths (1938).…”

“…One such case, a male infant who died at two months, had “no vestige of a globe” detectable macroscopically, but microscopic examination revealed a minute nodule of fibrous tissue in each orbit that contained no recognizable cell structure and was pigmented (Recordon & Griffiths, 1938). Similar nodules had been previously described in at least one of the orbits of three other cases (van Duyse, 1899; Hanke, 1904; Gallemaerts, 1924); cited in Recordon and Griffiths (1938). More recent histological studies also described orbital contents comprising muscle, nerve, and adipose tissue with fibrous nodules but no recognizable eye elements (Duckworth & Cooper, 1966; Haberland & Perou, 1969; Brunquell et al, 1984; Pierson et al, 2002).…”

“…Extraocular muscles inserted in residual bulbRudimentary medial and lateral recti present and medially displaced Implants bilaterally; right ovoid tissue mass Medial and lateral recti present bilaterally and inferior rectus in the left; all reduced in size Italicized cases are described and cited inRecordon and Griffiths (1938). II, optic; III, oculomotor; IV, trochlear; VI, abducens; Ch, chiasm; L, Left; R, Right; H, hypoplastic nerve; ✔, present; ✖, absent;?, undetermined.…”

Other-Worlds: Encounters with the Visual Perception of Lungfishes through Science and Art

“…Due to the inability of recording ERGs from abnormal lungfishes, it is hypothesised that it will not be possible to record VEPs in the abnormal N. forsteri as well. underdeveloped optic tract, optic nerve and optic chiasma in cattle (Leipold and Huston, 1968), and nodules containing condensed scleral tissue and choroidal pigment particles in humans (Recordon andGriffiths, 1938, Verma andFitzPatrick, 2007).…”