|Year : 1971 | Volume
| Issue : 2 | Page : 71-76
Congenital fuchs dystrophy
SRK Malik, Gurbax Singh
Department of Ophthalmology, Maulana Azad Medical College, New Delhi, India
Department of Ophthalmology, Maulana Azad Medical College, New Delhi
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Malik S, Singh G. Congenital fuchs dystrophy. Indian J Ophthalmol 1971;19:71-6
Fuchs in 1910 described a bilateral epithelial dystrophy, mainly in women, unassociated with inflammation and characterised by loss of sensations, superficial corneal cloudiness, epithelial oedema mainly affecting the central cornea. He later speculated that the endothelium might be involved in the production of lesion. Now it is a well known fact that the stromal and epithelial changes were preceded by disturbance of corneal endothelium. Hence Fuch's dystrophy came to be known as combined dystrophy of Fuch's. Fuch's dystriphy in most of the cases occurs above 50 years of age. The youngest case reported is 36 years old (Doggart).
The two cases being presented in this article are of interest as they presented as cases of bilateral corneal haze since birth and turned out to be cases of congenital Fuch's dystrophy on histopathological studies of the cornea. To our knowledge no case of congenital Fuch's destrophy has yet been reported in the literature.
| Observations|| |
Two cases were seen in the corneal clinic of Irwin Hispital, New Delhi.
Case I: P. Kaur, 9 year female presented as a case of bilateral diffuse corneal haze since childhood. It was misdiagnosed as a case of congenital glaucoma at one of the ophthalmic centres and was operated for glaucoma in the right eye without any subsequent improvement in corneal haze or visual acuity. On January 5, 1968 she visited the corneal clinic of Irwin Hospital, New Delhi. Examination revealed bilateral ground glass type of corneal haze especially in the central 7 mm of the cornea [Figure - 1]. The diameters of the cornea were 10 mm X 10.5 mm in both the eyes. Intra-ocular tension recorded at different times ranged between 20-23 mm of Hg. Schiotz. Pupils were reacting briskly to light. Instillation of glycerine eye drops in conjunctival sac partially decreased the corneal haze with improvement of vision from 1/60 to 3/60. Fundus could not be seen. Slit lamp examination revealed epithelial eodema with bullae formation. The stroma was also oedematous. A bronze reflex from the descemet's zone could be seen. There was no evidence of any ghost vessels or of uveitis. General examination of the case did not reveal any abnormality. Urine examination did not reveal increase excretion of mucopolysaccharides. Skin and conjunctival biopsy stained by special stains did not reveal changes seen in Forme Fruste of Hurler's disease. No family history of such disease was present. The girl was born of a normal labour. On January 8, 1968, a 6 mm partial penetrating graft was performed in the laft eye. The graft remained transparent in the post-operative period. The cornea showed slight ectasia in lower and outer part which was managed by pressure bandage, oral diamox and complete bed rest. After 20 days the introocular tension seemed full digitally. Examination of the case on slit lamp revealed a big anterior synechiae at 6'O clock position. Anterior synechiotomy was performed next day through a temporal limbal incision with air injection into the anterior chamber. Subsequently the intraocular pressure became normal. Fundus examination through the transparent graft revealed no abnormality. The graft is transparent uptil now. The visual acuity has improved to 6/24 with + 2.5 D. Sph. [Figure - 2].
Histopathological examination of the corneal button with haematoxylin and Eosin stain [Figure - 3],[Figure - 4],[Figure - 5] revealed the following changes:
(i) Epithelium: Showed epithelial oedema and epithelial bullae. The basal cells changed their shape to cuboidal type. [Figure - 3],[Figure - 4].
(ii) Bowman Memerane: Showed increase in its thickness.
(iii) Stroma: Showed oedema within its thickness.
(iv) Descemet's Membrane: was thickened in its entire extent. At places, it showed wart-like thickenings and excrescences on its surface.
(v) Endothelium: Serial sections from the corneal button revealed scanty endothelial cells [Figure - 5] some of them have got atrophied leaving behind a hyaline membrane on the posterior aspect of the descemet's membrane. By using various special stains for mucopolysaccharides no mucopolysacch aride deposits could be demonstrated in the corneal button. For control study, a normal corneal button from cadavar was subjected to histopathology by using similar fixative and staining methods.
Case II: Usha 10 years, female presented as a case of bilateral corneal haze since birth. Mother did not give history of prolonged labour or instrumental delivery. No history of such disease in the family. Examination revealed bilateral haze in the cornea leaving a 2 mm rim of cornea clear at periphery in both eyes. The visual acuity was 1/60 which improved to 2/60 after instillation of glycerol drops with slight decrease of haze. Slit lamp examination revealed epithelial oedema with formation of epithelial bullae, oedema of the stroma and disturbed pattern of endothelium. Pupil was seen normally reacting through the hazy cornea. Corneal diameter was 10 X 10.5 mm in both the eyes. Intraocular tension recorded at different times varied from 20 to 22 mm of schoitz in both the eyes.
A 6 mm penetrating graft was performed on 9th July, 1965 in the left eye. The graft remained transparent in the post operative period. Fundus could be visualized which did not show any glaucomatous cupping. Subsequently the graft became hazy.
Examination of the corneal button revealed the same changes as seen in the first case.
General physical examination revealed a patch of leukoderma on legs since childhood. 48 hours collected specimen of urine did not reveal increase in excretion of mucopolysaccharide.
| Discussion|| |
Two cases have been reported in this paper which we consider comprise a new entity called "congenital Fuch's dystrophy" not so far reported in the literature. Fuch's endothelial epithelial dystrophy is characterized by its appearance after the age of 50 years occurring bilaterally and commonly in females. Doggart in his series of 47 cases encountered one case aged 36 years. We have not come across any case in the literature reported as "congenital Fuch's dystrophy" so far. However congenital corneal guttata was noted as a rarity (Koeppe). Theodore reported an interesting family where cornea guttata occured in 3 successive generations, in the last of which it was congenital. The congenital cornea guttata differs from Fuch's dystrophy in its non-progressive course and non-affection of the visual acuity. (Duke-Elder  ).
Bilateral steamy cornea with border line intraocular tension have been reported in the literature. Maumenee  and Keats and Cvintal  reported such cases under the name of "congenital hereditary corneal dystrophy". The condition was characterised by bilateral porcelain white clouding of the cornea since birth with roughening of the epithelium, diffuse oedema of corneal stroma, normal intraocular tension, normal corneal diameters and absence of photophobia. These cases clinically resemble the cases reported in this series. Maumenee  performed four penetrating and one lamellar keratoplasty without any successful results. The failure of keratoplasty in his cases indirectly supports the primary defect in the endothelium. The histopathological changes in the epithelium, Bowman's membrane and stroma were almost the same as in our cases with absence of PAS positive material. He, however, did not find any epithelial bullae as seen in our cases [Figure - 2]. Although Maumenee noted the duplication and thickenning of the descemet's membrane in two cases with scarcity of endothelium in another 2 cases and absence in rest of the cases, he explained these changes on the basis of mishandling of the endothelium of the corneal button on the operation table without attaching any pathological significance to these observations. Keats and Cvintal  did not observe any pathological change in the Descemet's membrane. They also did not find any evidence of Forme Truste of Hurler's disease. We took special care to avoid any mishandling of corneal button and therefore, think that the histopathological features were due to the primary corneal disease. The histopathological changes in the cornea in our cases are typical of Fuch's dystrophy.
Clinically simiar looking cases were also reported by Scheie  under the name of "Forme Fruste of Hurler's disease" in which there is increased excretion of mucopolysaccharide in the urine, deposition of PAS positive material in the cornea, conjunctiva and skin. They did not study the endothelium and descemet's mebrane in these cases as it was damaged on the operation table. Our cases did not fit in this category because of absence of general features of the above disease.
Goliance and D, Amico  have done 2 successful 6 mm penetrating keratoplasty in one case of atypical mucopolysaccharidosis. The histopathological changes in corneal epithelium, bowman membrane and stroma in this dissease were same as in Scheie's cases.
Reviewing 8 cases of Maumenee 3 cases of Keats and Cvintal  of congenital hereditary dystrophy; 10 cases of Scheie  of Forme Fruste of Hurler disease and one case of atypical mucopolysaccharidosis of Goliance and D. Amico  we came to the conclusion that there was a lot of dissimilarity between our cases and those reported by the above workers. Our cases stand out as distinct entity because of following findings:
1. Absence of general systemic signs of forme Fruste of Hurler's disease.
2. The corneal haze was maximum in the centre than at the periphery.
3. The lesion was progressive.
4. Absence of PAS positive material in the stroma of the cornea, conjunctiva and skin.
5. Typical epithelial lesions with formation of epithelial bullae in the cornea.
6. Thickening of the Bowman's membrane in contrast to its absence or degeneration in Sheie's cases.
7. Uniform and wart like thickening of descemet's membrane.
8. Degeneration of the endothelial cells.
| Summary|| |
Two cases of bilateral congenital Fuch's endothelial epithelial dystrophy have been presented.
(1) The cases were characterised by bilateral ground glass opacity in the central part of cornea.
(2) Histopatholigically there were typical changes of Fuch's dystrophy.
(3) Differential diagnosis with laboratory investigation reports has been made from other similar conditions i.e. congenital glaucoma, congenital hereditary dystrophy, Ferme Fruste of Hurler's and atypical mucopolysaccharidosis,
(4) Results of keratoplasty in these cases have been reported.
| References|| |
DOGGART, J. H.: Fuchs endothelial epithelial dystrophy Trans. Ophthal. Soc. (U.K.) 51: 520, 1931.
DUKE ELDER, S.: Congenital endothelial dystrophy. System of Ophthalmology. Vol III Part 2, pp, 535, 1964.
FUCHS, E.: Epithelial and endothelial corneal dystrophy Trans. Ophth. Soc. (U. K.) 51: 520, 1931.
GOLLANCE, B. R. and D' AMICO, A. R.: A typical mucopolysaccharidosis and successful keratoplasty, Amer, J. Ophth. 64: No. 4 (Oct.) 707-716, 1967.
KEATES, R. K. and CUINTAL, T.: Congenital hereditary corneal dystrophy. Am. J. Ophth. 60: 892-894, 1950.
KOEPPE, L.: Congenital endothelial dystrophy. V. Graefe, Arch. Ophthal. 91:375, 1916.
MAUMENEE, A. E.: Congenital hereditary corneal dystrophy Am. J. Ophth. 50:1114-1124, 1960.
SCHEIE, H. G.; HAMBRICK; G. W., Jr. and BARNERS, L. A. A. newly recognised forme fruste of Hurler's diseasa (gorgoylism). Am. J. Ophth. 53: 753-769, 1962.
THEODORE, F. H.: Congenital endothelial dystrophy. Arch. Ophthal. (Chicago) Vol. 21, 626, 1939.
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]