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The Eye in Epidermolysis Bullosa Br J Ophthalmol: First Published As 10.1136/Bjo.83.3.323 on 1 March 1999

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The Eye in Epidermolysis Bullosa Br J Ophthalmol: First Published As 10.1136/Bjo.83.3.323 on 1 March 1999 Br J Ophthalmol 1999;83:323–326 323 The eye in epidermolysis bullosa Br J Ophthalmol: first published as 10.1136/bjo.83.3.323 on 1 March 1999. Downloaded from L Tong, P R Hodgkins, J Denyer, D Brosnahan, J Harper, I Russell-Eggitt, DSITaylor, D Atherton Abstract Subsequent tissue involvement is diVerent in Aims—To describe the ophthalmic find- each subtype of EB.9 Simplex disease involves ings in a large cohort of epidermolysis the basal cells, junctional disease the lamina bullosa (EB) patients managed in one lucida. Dystrophic aVects the dermis below the large specialist centre. lamina densa at the level of the anchoring Methods—A case note review of consecu- fibrils. Among the diVerent subtypes there is tive patients seen at Great Ormond Street considerable variation in the severity of sys- Children’s Hospital. Data on the dermato- temic disease and ocular involvement. Ocular logical disease, ophthalmic history, and features previously described include corneal examination were collected and coded abrasions (three), corneal scars (two), corneal onto a data sheet. pannus (two), eyelid blisters (two), eyelid Results—181 patients: 50 (28%) simplex ectropion (two), conjunctival blisters (two), EB; 15 (8%) junctional EB; 28 (15%) auto- and symblepharon (two). Other ocular associa- somal dominant dystrophic EB; 72 (40%) tions reported in EB include cataracts (11), autosomal recessive dystrophic EB; nine cornea plana and sclerocornea (12), refractive patients (5%) with dystrophic EB whose errors, amblyopia, lacrimal duct obstruction, strabismus, lens subluxation, posterior vitreous inheritance could not be ascertained; and 2 seven cases (4%) of EB that could not be detachment, and Graves’ disease. classified. Ocular problems were found in This study aimed to describe the ophthalmic 12% (n=6) of simplex patients and 40% findings in a large cohort of EB patients who (n=6) of those with junctional disease. One have been carefully and systematically exam- patient (of 28) in the autosomal dominant ined in one large specialist centre. This is, firstly, to compare the incidence of complica- dystrophic group had ocular involvement tions with another large series and, secondly, to and 51% (37/72) of patients in the auto- indicate which patients are most at risk and somal recessive dystrophic group had therefore to assist in the management of these ophthalmic complications: corneal (25/ patients. 72), lid ectropions (3/72), lid blisters (5/72), and symblepharon (3/72). Conclusion—Ophthalmic complications Methods http://bjo.bmj.com/ are common in EB overall but the inci- Consecutive patient names and hospital num- dence varies widely with subtype. Oph- bers were located from the database kept by the thalmic complications are the most severe specialist dermatology EB team coordinator. in the dystrophic recessive and junctional Between 1980 to 1996 at the Hospital for Sick Department of subtypes where there is a need for extra Children, Great Ormond Street, London, 181 Ophthalmology, Great vigilance. The major treatment modality patients were seen. Records were located in all Ormond Street was use of ocular lubricants. cases. All patients had been seen by a consult- Hospital for Children (Br J Ophthalmol 1999;83:323–326) ant dermatologist and had undergone a stand- on September 24, 2021 by guest. Protected copyright. NHS Trust, Great Ormond Street, ard clinical examination consisting of: general London WC1N 3JH examination by the dermatologist, nutritional L Tong Epidermolysis bullosa (EB) is a term for a assessment by a dietitian, dental assessment, P R Hodgkins group of conditions associated with abnormali- physiotherapy assessment, and blood tests to D Brosnahan ties of the basement membrane zone of skin check nutritional status. Where indicated, I Russell-Eggitt and mucous membranes. Most frequently it is biopsy of unaVected skin was done and immu- DSITaylor genetically determined and congenital al- nohistochemistry and electron microscopy of though there is an acquired variety. The Department of the specimens performed. Dermatology, Great characteristic features are skin and mucosal All patients had also been seen by an Ormond Street fragility starting during infancy with a ten- ophthalmologist of at least senior registrar Hospital for Children dency to blister after even minor trauma. The level. Full ophthalmic examination was per- NHS Trust, Great involvement of the eye with conjunctival and formed consisting of: vision (visual acuity Ormond Street, corneal blistering can lead to progressive scar- where possible); refraction, ocular alignment London WC1N 3JH 1 J Denyer ring with reduced vision and even blindness. and ocular motility; slit lamp examination and J Harper There are several genetic subtypes: dystrophic tear film assessment. Details of the results of D Atherton (autosomal recessive and autosomal domi- this examination were recorded on to a data nant), junctional, and simplex. Even within sheet. The presence or absence of the following Correspondence to: these subtypes clinical variability has been rec- Mr P Hodgkins, lesions was coded together with their duration Southampton Eye Unit, ognised and further subcategorisation has been if known: punctate keratitis, corneal abrasion, Tremona Road, applied.2 Many of the subtypes of EB have now pannus or scar, conjunctival blister or sym- Southampton, SO16 6YD. been characterised by mutations of various blepharon, eyelid ectropion or entropion. A 3–8 Accepted for publication genes aVecting diVerent elements of the history suggestive of corneal erosions (recur- 11 September 1998 basement membrane zone. rent red eye with photophobia) was also noted. 324 Tong, Hodgkins, Denyer, et al 2 Table 1 Comparison of the results from Lin et al with the current study with any particular subtype of EB. Special pre- Br J Ophthalmol: first published as 10.1136/bjo.83.3.323 on 1 March 1999. Downloaded from cautions were taken with the pressure points Lin et al2 This study for glasses with sponge padding and for Total number of EB patients 204 181 patches soft tie on occlusion was used. Using Number of male EB patients * 100 this technique few problems were encountered Number of female EB patients * 81 Number of simplex EB patients 68 50 in treatment of the amblyopia by occlusion or Number of junctional EB patients 36 15 spectacle correction. Three patients had Number of recessive dystrophic EB patients 61 72 squints, including one with an A pattern and Number of dominant dystrophic EB patients 17 28 Number of dystrophic EB of unknown subtype 10 9 facial asymmetry. Among these, one patient Number of unclassified EB 22 7 had an alternating convergent squint of 80 Ocular complications in simplex EB patients 2 (3%) 6 (12%) Ocular complications in junctional EB patients 14 (39%) 6 (40%) prism dioptres without glasses and 30 prism Ocular complications in recessive dystrophic EB patients 31 (51%) 37 (51%) dioptres with glasses of +6.0 DS right and left. Ocular complications in dominant dystrophic EB patients 3 1 (4%) Subsequent squint surgery was uneventful. Ocular complications as a whole 53 (26%) 50 (28%) Corneal opacity/scar in recessive dystrophic EB patients 24 (39%) 17 (24%) Miscellaneous features noted were lacrimal Corneal pannus in recessive dystrophic EB patients 12 (20%) 13 (18%) punctal occlusion (one patient); punctal papil- Source of patients National EB Registry EB register loma on the eyelid (one patient); recurrent Country of study USA UK subconjunctival haemorrhage (one patient); *Not reported. pseudopterygia (four patients); microphthal- mos (one patient); anterior polar cataract with Results astigmatism (one patient). Records were found on all patients in the study The method of treatment in all our patients group (n=181). The study population included was conservative with frequent ocular lubri- 100 males—55% (mean age 9.6 (SD 5.6) cants, such as preservative-free hypromellose years) and 81 females—45% (mean age 10.5 drops in the daytime, which were as frequent as (6.0) years). The subtypes of EB were 50 hourly, and eye ointment at night. (28%) simplex EB; 15 (8%) junctional EB; 28 (15%) autosomal dominant dystrophic EB; 72 Discussion (40%) autosomal recessive dystrophic EB; nine We have reviewed the dermatological diagnosis patients (5%) with dystrophic EB of uncertain and ophthalmic examinations in a large group inheritance; and seven cases (4%) of unclassi- of patients with EB seen at one specialist Brit- fied EB. ish centre. Previously McDonnell10 studied a Autosomal dominant dystrophic EB (n=28): series of 11 patients with dystrophic EB and only one patient (4%) had significant ocular reported 73% of patients were noted to have involvement consisting of conjunctival blister- eye changes. In the largest series of patients ing without eyelid or corneal disease. published to date from the United States, ocu- Autosomal recessive dystrophic EB (n=72): lar complications were seen in 26% of the 204 14% (n=10) reported symptoms of recurrent patients . The results of this study by Lin et al 2 erosions but were normal on examination agree closely our results (Table 1). while 51% (n=37) had eye complications on http://bjo.bmj.com/ examination. Ocular involvement consisted of: SIMPLEX EB 25/37 (68%) had corneal complications, in- Simplex EB has various subtypes such as cluding three cases of corneal abrasion, 13 Weber–Cockayne, Koebner, and Dowling, cases of corneal scarring and nine cases of cor- which diVer in their clinical features. In our neal pannus; 8% (3/37) had exposure keratitis study no ocular involvement was found in associated with upper and lower eyelid ectropi- patients with Weber–Cockayne and Koebner ons; 24% (9/37) of the patients had conjuncti- subtypes. Simplex patients with ocular involve- on September 24, 2021 by guest. Protected copyright. val complications; 14% (5/37) of the patients ment (eyelid blistering and corneal abrasion) had eyelid blisters. belonged exclusively to the Dowling–Meara Junctional EB (n=15): 40% (n=6) had eye subtype in which the skin disease is normally complications. Three had corneal scarring, two more severe.11–12 had severe exposure keratopathy, and one had Simplex EB is caused by mutations in the corneal abrasion.
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