Year : 1954 | Volume
: 2 | Issue : 3 | Page : 82--83
Heredodegeneration of the macula lutea in association with retinitis pigmentosa in three members of one family
S Lawrence Samuels
Eye Department, Christian Hospital, Mungeli, Bilaspur, M.P, India
S Lawrence Samuels
Eye Department, Christian Hospital, Mungeli, Bilaspur, M.P
|How to cite this article:|
Samuels S L. Heredodegeneration of the macula lutea in association with retinitis pigmentosa in three members of one family.Indian J Ophthalmol 1954;2:82-83
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Samuels S L. Heredodegeneration of the macula lutea in association with retinitis pigmentosa in three members of one family. Indian J Ophthalmol [serial online] 1954 [cited 2020 Jul 12 ];2:82-83
Available from: http://www.ijo.in/text.asp?1954/2/3/82/33600
There are two well known diseases of the retina which are known to have an hereditary basis. The first, heredodegeneration of the macula occurs most frequently by itself but may occur in association with other affections of the retina or of the central nervous system. The other not uncommon retinal condition listed as having a distinct hereditary background is primary degeneration of the neuroepithelium of the retina, so called Retinitnis Pigmentosa. The association of these two diseases in the same individual does not mean that we are dealing with a new disease, or even a new variant of either disease. Apparently the conditions responsible for each of these hereditary diseases are contained in the germ plasm of this one person. Each affection is considered independent of the other. Other hereditary diseases somtimes found in association with heredodegeneration of the macula include atrophy of the optic nerve, colour blindness and cerebral degeneration.
Stargardt in 1913 reported a family of two brothers and one sister with the combination of heredodegeneration of the macula and degeneration of the peripheral part of the retina. All three had typical macular lesions and involvement of the periphery by pigmentary disturbances. He assumed that the lesion in these cases had spread from the macula to the periphery, but it is most likely that he was dealing with two distinct heredodegeneraive diseases of the retina, one involving the macula, the other originally affecting the periphery. So rare is this association, of these two well known diseases that I have been unable to find any other reference in the literature to any other like cases.
This report is about another family group almost identical with that of Stargardt. Two brothers and one sister are involved as in his report and all three showed the typical macular and peripheral changes so characteristic of heredodegeneration of the macula and retinitis pigmentosa. The boys were 9 and 14, the girl was 16 years old. They came to our Mission Hospital, at Mungeli from a small town about 80 miles away, a few miles west of Raipur. They were brought here by their grandmother and accompanied by an adult family friend. All information concerning them was elicited from these two. The neighbour noticed that these children had difficulty in getting around as soon as they were able to walk because they would continually stumble or bump into obstructions in their path. From the grandmother we extracted what family history was possible and a fairly pertinent past and present history of the visual difficulties these children exhibited. The attempt to classify these cases on an hereditary basis proved futile, as far as she could recollect. Her vision was fair and she claimed her husband, who died three years ago with tuberculosis, also had good vision. Likewise, her recollection of the maternal grandparents was that they had good vision and died quite old. Her son, the children's father, had died about nine years ago with typhoid fever and had had no eye disease. The mother was living, had good vision, and had borne three additional children to her present consort, none of whom showed any of the behaviour of her three older offspring. So much for the familial history which by necessity is scanty and inconclusive.
As to the patients themselves, they were quite well nourished and developed. In their previous history there were no apparent eye infections, no signs of trachoma, corneal ulcers, avitaminosis, or uveal inflammation. There was no obvious mental retardation, although they were unlettered, and the girl and younger boy showed excessive shyness. The older boy was very personable and communicative. All were cooperative. Hearing was good. The vision ranged from light perception with poor projection in the girl to hand movement at two metres in the boy of 14. The tests on the younger boy were not reliable. The pupils reacted from good in the boys to sluggish in the girl. There was no external sign of disease except that the older boy had a slight but noticeable exotropia of the right eye.
According to the informant, each of the children went through the same stages of visual difficulty. They started seeing dimly at two or three years of age and this diminition has progressed gradually until now they are greatly handicapped. At first they could not see in the night. Now they cannot travel during the day and the little boy is carried about most of the time although his limbs are sound.
The pupils dilated well with 2% Homatropine. The vitreous was clear and the lens showed no existence of metabolic disturbances. The colour of the fundus was gray-white in the girl and much darker in the youngest. The vessels, especially the arteries, showed gradations of attenuation of their caliber, being most marked in the oldest patient. The macular areas all showed degenerative changes, were round and about the size of the disc, were sharply demarcated, and in colour were yellowish brown with fine stippling of pigment in the boys' and larger accumulation of pigment in the girls', which also contained glistening dots that gave a silvery sheen to the whole macula. There was no foveal reflex. There was a definite area of normal appearing fundus in the younger boy around the optic disc and going halfway to the periphery except for the macular area. In the older boy there was some depigmentation and this was most marked in the .girl, the oldest of the group. However, the choroidal vessels were not prominent in the last case but the fundus gave a rather grayish-white appearance. In the periphery and extending midway toward the centre were pigmentary deposits so characteristic of bone corpuscles, with a dense centre and irregular processes, seen in Retinitis Pigmentosa. The pigment deposits did not encroach on the macular regions and seemed more numerous on the nansal side. There were no hxmorrhages or other inflamamtory signs in the fundus picture.
It is unfortunate that we did not have at our disposal the means to photograph the unusual and interesting fundi. They deserve this perpetuation, for this association of the two well known heredodegenerations of the retina is most uncommon and rare.
|1||Elwyn, H.. Diseases of the Retina, The Blakiston Company.|
|2||Stargardt, K., Ueber familiare progressive Degeneration in der Maculagegend des Auges, ( 1913 ), Ztschr. f. Augenh., 30 : 95.|
|3||Duke-Elder, W. S., "Tex-book of Ophthalmology", Vol. 3, p. 2765, St. Louis, The C. V. Mosby Co., 1945.|