Indian Journal of Ophthalmology

: 1971  |  Volume : 19  |  Issue : 2  |  Page : 71--76

Congenital fuchs dystrophy

SRK Malik, Gurbax Singh 
 Department of Ophthalmology, Maulana Azad Medical College, New Delhi, India

Correspondence Address:
SRK Malik
Department of Ophthalmology, Maulana Azad Medical College, New Delhi

How to cite this article:
Malik S, Singh G. Congenital fuchs dystrophy.Indian J Ophthalmol 1971;19:71-76

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Malik S, Singh G. Congenital fuchs dystrophy. Indian J Ophthalmol [serial online] 1971 [cited 2021 Jun 20 ];19:71-76
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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[1]).

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.


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.


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[1] 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[6]). Theodore[9] 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 [2] ).

Bilateral steamy cornea with border line intraocular tension have been reported in the litera­ture. Maumenee [7] and Keats and Cvintal [5] 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 [7] 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 [5] 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 [8] 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 [4] 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 [5] of congenital hereditary dystrophy; 10 cases of Scheie [8] of Forme Fruste of Hurler disease and one case of atypical mucopolysaccharidosis of Goliance and D. Amico [4] 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.


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.


1DOGGART, J. H.: Fuchs endothe­lial epithelial dystrophy Trans. Ophthal. Soc. (U.K.) 51: 520, 1931.
2DUKE ELDER, S.: Congenital en­dothelial dystrophy. System of Ophthalmology. Vol III Part 2, pp, 535, 1964.
3FUCHS, E.: Epithelial and endo­thelial corneal dystrophy Trans. Ophth. Soc. (U. K.) 51: 520, 1931.
4GOLLANCE, B. R. and D' AMICO, A. R.: A typical mucopolysacchari­dosis and successful keratoplasty, Amer, J. Ophth. 64: No. 4 (Oct.) 707-716, 1967.
5KEATES, R. K. and CUINTAL, T.: Congenital hereditary corneal dys­trophy. Am. J. Ophth. 60: 892-894, 1950.
6KOEPPE, L.: Congenital endothe­lial dystrophy. V. Graefe, Arch. Ophthal. 91:375, 1916.
7MAUMENEE, A. E.: Congenital hereditary corneal dystrophy Am. J. Ophth. 50:1114-1124, 1960.
8SCHEIE, 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.
9THEODORE, F. H.: Congenital en­dothelial dystrophy. Arch. Oph­thal. (Chicago) Vol. 21, 626, 1939.