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«824 ATROPHIA GYRATA CHOROIDEAE ET RETINAE* BY JOHAN SA-B0 NORWAY IN 1871 Mauthner published the report of an eye-condition, named choroideremia, and ...»

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824

ATROPHIA GYRATA CHOROIDEAE ET RETINAE*

BY

JOHAN SA-B0

NORWAY

IN 1871 Mauthner published the report of an eye-condition, named

choroideremia, and in 1896 E. Fuchs described a similar case under

the term of atrophia gyrata choroideae et retinae. Later about 35

investigators have reported some 50 similar cases, trying to classify

them as belonging to tbe one or other of these two clinical pictures

first described.

It is evideht from their information, however, that they have not always succeeded, and on reading the reports one receives an impression of great confusion.

Mainly, however, two divergent conceptions are prevalent,

namely:

L. The two'clinical pictures described both'belong to the same condition, choroideremia forming the ultimate stage in the development of atrophia gyrata.

2. They are seen as different diseases, choroideremia being a defect or malformation, and atrophia gyrata an acquired progressive degeneration (atrophy) of retina and choroid.

Duke-Elder (1946) does not try to conceal the confusion around these conditions, writing: " In view of our unsatisfactory knowledge of both conditions an'd in the complete absence of pathological studies, the question must be left open; indeed it is questionable whether either condition forms a homogeneous group," and he goes on: "It will also be remembered that no case of choroideremia has been seen younger than 14 years, but at the same time no one has yet seen a case of gyrate atrophy dev'elop into this condition."

Another /writer, Bedell (1937) declares: " The cases are too few to warrant dogmatic statements."

The variation in description of different symptoms in these conditions is not so great as to prevent a review of their main common features.

The condition is often familial. Consanguinity has been demonstrated in some cases. The hereditary character of the disease has been men'tioned, the recessive modus being specially d-iscussed.

But especially on this point the information is unsatisfactory.

Night-blindness is one of the first and commonest symptoms.

* From the University Eye Department, Rikshospitalet, Oslo. Chief: Professor Birger Malling, M.D. Received for publication, January 29, 1948.

ATROPHIA GYRATA CHOROIDEAE ET RETINAE 825

Most patients state that their night-blindness has lasted a long as they can remember, others have noticed the symptom first in the twenties. Determination of the commencement of the disease on this basis is therefore difficult.

The actual changes in the fundus oculi have been observed at various ages, down to 10 years (Mori, 1914; Werkle, 1931). Most publications, however, deal with patients of 20 years or more.

Central vision becomes affected in an advanced stage, considerably.

reduced vision or amaurosis then occurring, at a relatively early age.

The initial symptoms are usually vague, and this is probably the reason why no one has yet been able to determine just when and how the changes in the fundus take place.

The conditions have in several cases been associated with myopia, sometimes to a considerable degree. The accompanying

myopia has even been considered decisive for the diagnosis:

choroideremia or atrophia gyrata (Beckershaus, 1926).

The visual fields are in most cases contracted, in a great number of cases to within 100.

Descriptions of the changes in the fundus vary. -No two cases seem alike. In his work Bedell'expresses the same opinion when saying: " At the beginning of this discussion I wish to say that practically no two cases are alike in regard to the distribution of pigment, the size and shape of the retained choroid about the macula or the modifications of the retinal and choroidal circulation.

Many cases are similar but none are identical."

The changes vary in the different cases as well as in the two eytes of the same patient (Wernicke, 1909). Varying types have also been described within the same family (Bohm, 1932; Werkle).

The changes in the fundus have been described as a more or less extensive defect or atrophy, essentially of the central part of the fundus. The area round'the macular region, however, seems to retain its normal appearance for a long time. Pigment and choroidal vessels become reduced and vanish from the atrophicpart, which ultimately shows a whitish, glistening field with a few scattered pigment masses. This defect or atrophy may in some cases spread as far as- to the periphery of the fundus. In other cases a rim of comparatively normal appearance is seen.' This rim, or the remains of it, has been described in choroideremia and in gyrate atrophy.

Most authors claim that normal appearance of the retinal vessels is retained, whereas oth-ers, inter al. E. Fuchs, that they may be contracted almost to invisibility.

the optic discs have in most cases been described as normal, whereas E. Fuchs and Beckershaus state them to be yellow as in retinitis pigmentosa, and Bencini (1938) to be rose-coloured.

JOHAN S2EBO The earlier published records thus offer several common features: familial occurrence, night-blindness, reduction of central vision, defect of the visual field and defect or atrophy of the central part of the fundus, an area around the macular region and a peripheral rim excepted.





The varying descriptions of these conditions in different publications make it difficult to classify them. The characteristics which

-have been thought to distinguish the two conditions, atrophia gyrata and choroideremia, from one another are not always convincing. The efforts of the various text-books to describe the clinical picture of the two conditions- give clear evidence of this difficulty.

The question will then be whether this difficulty can be explained on the basis of the available literature and the present material.

The conditions being rare, few students have had a chance to see many cases. If that should happen, they belong as a rule to the same family and the same generation and are of nearly equal age. It has, therefore, not been possible to observe the progressiveness of the disease. The insidiousness of the initial symptoms prevents an early diagnosi-s, and the condition has, therefore, never been followed from its beginning. The information given is often somewhat unsatisfactory, and one lacks illustrations of the findings. Therefore, a comparison between the individual cases is often impracticable. There is often no information as to whether the examination has been made in mydriasis and it is just in these cases that it is important to study the peripheral fundus findings in order to make a differential diagnosis between atrophia gyrata and choroideremia.

It has been mentioned that some of the cases are associated with myopia, and it is possible that enough attention has not been paid to the atrophic changes for which the myopic condition itself is responsible.

Further the pigmentation of the fundus is known to vary in light- and dark-complexioned individuals, so that even this factor has to be considered.

Accurate familial investigations are lacking. It is often merely mentioned that no other member. of the family is suffering from the disease, or that no-consanguinity has been found.

The close connection between these two conditions and retinitis pigmentosa has been a constant source of confusion. Thus Leber (1877) has classified Mauthner's case as an extreme retinitis pigmentosa.

Reports of the examination of the visual fields are seldom supplied with charts.

ATROPHIA GYRATA CHOROIDEAE ET RETINAE 827

The presence of night-blindness has as a rule been reported, without any information as to how this has been demonstrated.

Accordingly the publication of every new investigation into these rare conditions seems justified.

First an attempt will be made to give a clinical picture, based on the present material, consisting of a family with 4 affected brothers, aged 27, 38, 44 and 46 years. Next this will be compared with the earlier descriptions to such an extent as is possible.

The present work will possibly contribute to the solution of some of the problems arising in connection with earlier publications with varying titles: choroideremia, atrophy of choroid, retinitis pigmentosa atypica, retino-choroidal atrophy, deficit of choroidea, congenital absence of choroidea with retinitis pigmentosa, congenital deficit of choroidea, etc.

On account of the familial examinations journeys have been made to Solbr, the home of most members of the family. Investigations have also been made to the Public Register in Hamar and at the Parish Register.

Dark-adaptation has been examined by means of a biophotometer. The procedure has been: adaptation to dark for 20 min., then adaptation to light for 10 min.

The illustrations of the fundus oculi have been drawn by A. Scheen, Oslo. To include also the peripheral part of fundus, the picture of the central part has been somewhat condensed. The changes in the fundus being'decidedly symmetrical in both eyes, the picture of more than one eye from each patient has been considtred unnecessary.

Case reports General examination of the members of the family in question has revealed no other disease nor defect that might be suspected of having a connection with the mentioned eye-condition. All members of the family seemed normally equipped mentally. They, were well-built and healthy-looking. Wassermann reaction was negative in the four affected brothers. Neither did the information of causes of death in the family suggest any prevailing familial disease that might be connected with the eye-condition. General examination of the diseased eyes has offered no pathological finding, apart from those in the fundus. The lenses were clear in all the patients. Transpupillary illumination showed a glistening white reflex from the central part of the fundus. Tension was normal in all. All examinations have been made in. maximal JOHAN SXBO mydriasis. The patients were dark-haired and with brownish complexion.

Case 1. I.

H., born March 24, 1915, aged 27 years.-The first trouble noted by the patient was difficulty in finding his way home after dark. There was a marked difference between himself and his working companions. He felt inclined to believe this night-blindness to have been present ever since he was a child, but was sure it was there at twenty..He was an average pupil of the preliminary school and reading caused him no trouble. He served his military term as a common soldier. He was working in the woods, and in his work he had no inconvenience from his eyes. He had noticed a slight peculiarity, however, namely that when he was looking for any small object, the location of it took him a considerable time.

He had in a way to search for it with his eyes. He had noticed no flickering nor photopsias. Vision, he believed, was still good during day-time, but the, diminution of night-vision was troublesome.

Status praesens 5/1/43:

Fundus o. dext. Plate I, Fig. 1.

The optic disc is of normal colour and appearance. Temporally it is surrounded by a narrow white halo. The retinal vessels seem normal. Centrally in the fundus there is a somewhat irregular area measuring about 3 disc-diameters, striking because of its reddish colour in the otherwise whitish annular zone surrounding this area and the optic disc. The appearance of this macular area is practically normal. Temporally it has a somewhat irregular brownish pigment-border with some projections. Otherwise it shows some scattered pigment spots, somewhat more densely accumulated in macula proper. Peripherally there are some traces of choroidal vessels. The borders towards the disc are more diffuse with even transition into an atrophic area with fine pigment granules, specially above and below the disc. Several choroidal vessels are seen in the atrophic part between the disc and the macular region.

This maculo-papillary region is surrounded by a whitish annular zone, varying in width, and peripherally limited by an irregular pigment-border with long pigmented projections into the light annular zone. In turn these may communicate with irregular pigment-masses in the light zone, thus forming lagoon-like designs. Pigment is totally lacking in a great part of this annular zone, and the white sclera is seen shining through. Specially on the nasal side a great part of the choroidal vessels is obliterated, only a few contracted ones remaining in some places. Between the peripheral border in the fundus and the macular area, however, some thick choroidal vessels are seen crossing the white zone.

PLATE I

–  –  –

FIG. 4.

Atrophia gyrata choroideae et retinae. Fundus o.d. Case 4, E.H., aged 46 years.

ATROPHIA GYRATA CHOROIDEAE ET RETINAE 829

This whitish zone is surrounded by a rim of apparently normal fundus. It is somewhat wider temporally than nasally and centrally it is limited by the above mentioned pigment-border with its projections. The part immediately outside the peripheral border, however, is slightly greyish with irregularities of pigmentation and of atrophic appearance. Near the border the choroidal vessels from the whitish annular zone are distinguishable.

The picture of fundus o. sin. is practically the same. The optic disc and the retinal vessels must be described as normal. The reddish macular area is somnewhat larger and more irregular, but otherwise showing the same properties as the right side. Except on the nasal side this area is everywhere surrounded by a pigmentborder. The same whitish annular zone is seen surrounding the maculo-papillary region, that peripherally is limited by a pigmentborder with projections, showing the same tendency to lagoonformation. Scattered in the white zone, particularly around the optic disc and between the macular region and the disc, are some larger pigment masses and dust-like dots. The choroidal vessels are highly reduced, a few thick ones still persisting temporally in the zone, specially in connection with upper and lower part of the macular region. The peripheral rim is present, and is of the same appearance as on right side.

Visus: o.d.: 5/5, o.s. :- 5/5.

Fields of vision: See Chart, Plate II, Fig. 1.

Sense of colour: Normal according to Ishihara.

Night-vision: See text-fig. 2, p.838. Reduced.



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