Corneal Surface Irregularities and Episodic Pain in a Patient With Mucolipidosis IV

A Variant Form of Mucolipidosis IV: Report on 4 Patients From the Indian Subcontinent

“…7 Clinical manifestations usually consist of severe psychomotor delay, corneal clouding, retinal dystrophy, and optic atrophy resulting in visual impairment, which may be the first noticeable sign of the disease. 2,8 The most evident eye finding in this disease is corneal clouding, which is an important diagnostic clue. 4,8 In a recent cohort of 28 patients with mucolipidosis IV, corneal clouding was present in all patients.…”

A Variant Form of Mucolipidosis IV: Report on 4 Patients From the Indian Subcontinent

“…7 Clinical manifestations usually consist of severe psychomotor delay, corneal clouding, retinal dystrophy, and optic atrophy resulting in visual impairment, which may be the first noticeable sign of the disease. 2,8 The most evident eye finding in this disease is corneal clouding, which is an important diagnostic clue. 4,8 In a recent cohort of 28 patients with mucolipidosis IV, corneal clouding was present in all patients.…”

The High Association of Ophthalmic Manifestations in Individuals With Mucolipidosis Type IV

“…Of the patients with ML4 in the literature, only one ocular autopsy and one lens aspiration was performed. These studies did not mention histopathologic evidence of lysosomal storage bodies in the lens 23,27. Therefore, the cause of cataracts in these patients is unknown.…”

“…Other ophthalmic findings of ML4 reported in the literature are likely to be sequalae of the primary abnormalities, including corneal opacification, optic nerve atrophy, and retinal degeneration. Episodes of ocular pain, photophobia, and excessive lacrimation were found in 19.4% of patients and likely represent recurrent corneal erosion caused by accumulation of storage bodies in the corneal epithelium 15,23. Strabismus was commonly reported in the literature (n = 54; 58.1%) and was sometimes the presenting feature.…”

“…It is possible that this feature may be a manifestation of mild facial coarsening previously described in patients with ML4. 13,18 The patient in a study by Newman et al 23 had unilateral eyelid swelling with ipsilateral ocular pain, tearing, rhinorrhea, and facial flushing secondary to cutaneous stimulation of the eyelid. This presentation is suggestive of a reflex sympathetic dystrophy triggered by corneal irritation.…”

“…There were 3 patients with posterior subcapsular cataracts, 2 with nuclear-cortical cataracts, 1 with a punctate cataract, and the remaining were unspecified. 17,20,22,23,26,27 Of the patients with ML4 in the literature, only one ocular autopsy and one lens aspiration was performed. These studies did not mention histopathologic evidence of lysosomal storage bodies in the lens.…”

A Variant Form of Mucolipidosis IV: Report on 4 Patients From the Indian Subcontinent

“…7 Clinical manifestations usually consist of severe psychomotor delay, corneal clouding, retinal dystrophy, and optic atrophy resulting in visual impairment, which may be the first noticeable sign of the disease. 2,8 The most evident eye finding in this disease is corneal clouding, which is an important diagnostic clue. 4,8 In a recent cohort of 28 patients with mucolipidosis IV, corneal clouding was present in all patients.…”

The High Association of Ophthalmic Manifestations in Individuals With Mucolipidosis Type IV

“…Of the patients with ML4 in the literature, only one ocular autopsy and one lens aspiration was performed. These studies did not mention histopathologic evidence of lysosomal storage bodies in the lens 23,27. Therefore, the cause of cataracts in these patients is unknown.…”

“…Other ophthalmic findings of ML4 reported in the literature are likely to be sequalae of the primary abnormalities, including corneal opacification, optic nerve atrophy, and retinal degeneration. Episodes of ocular pain, photophobia, and excessive lacrimation were found in 19.4% of patients and likely represent recurrent corneal erosion caused by accumulation of storage bodies in the corneal epithelium 15,23. Strabismus was commonly reported in the literature (n = 54; 58.1%) and was sometimes the presenting feature.…”

“…It is possible that this feature may be a manifestation of mild facial coarsening previously described in patients with ML4. 13,18 The patient in a study by Newman et al 23 had unilateral eyelid swelling with ipsilateral ocular pain, tearing, rhinorrhea, and facial flushing secondary to cutaneous stimulation of the eyelid. This presentation is suggestive of a reflex sympathetic dystrophy triggered by corneal irritation.…”

“…There were 3 patients with posterior subcapsular cataracts, 2 with nuclear-cortical cataracts, 1 with a punctate cataract, and the remaining were unspecified. 17,20,22,23,26,27 Of the patients with ML4 in the literature, only one ocular autopsy and one lens aspiration was performed. These studies did not mention histopathologic evidence of lysosomal storage bodies in the lens.…”

A Variant Form of Mucolipidosis IV: Report on 4 Patients From the Indian Subcontinent

“…7 Clinical manifestations usually consist of severe psychomotor delay, corneal clouding, retinal dystrophy, and optic atrophy resulting in visual impairment, which may be the first noticeable sign of the disease. 2,8 The most evident eye finding in this disease is corneal clouding, which is an important diagnostic clue. 4,8 In a recent cohort of 28 patients with mucolipidosis IV, corneal clouding was present in all patients.…”

The High Association of Ophthalmic Manifestations in Individuals With Mucolipidosis Type IV

“…Of the patients with ML4 in the literature, only one ocular autopsy and one lens aspiration was performed. These studies did not mention histopathologic evidence of lysosomal storage bodies in the lens 23,27. Therefore, the cause of cataracts in these patients is unknown.…”

“…Other ophthalmic findings of ML4 reported in the literature are likely to be sequalae of the primary abnormalities, including corneal opacification, optic nerve atrophy, and retinal degeneration. Episodes of ocular pain, photophobia, and excessive lacrimation were found in 19.4% of patients and likely represent recurrent corneal erosion caused by accumulation of storage bodies in the corneal epithelium 15,23. Strabismus was commonly reported in the literature (n = 54; 58.1%) and was sometimes the presenting feature.…”

“…It is possible that this feature may be a manifestation of mild facial coarsening previously described in patients with ML4. 13,18 The patient in a study by Newman et al 23 had unilateral eyelid swelling with ipsilateral ocular pain, tearing, rhinorrhea, and facial flushing secondary to cutaneous stimulation of the eyelid. This presentation is suggestive of a reflex sympathetic dystrophy triggered by corneal irritation.…”

“…There were 3 patients with posterior subcapsular cataracts, 2 with nuclear-cortical cataracts, 1 with a punctate cataract, and the remaining were unspecified. 17,20,22,23,26,27 Of the patients with ML4 in the literature, only one ocular autopsy and one lens aspiration was performed. These studies did not mention histopathologic evidence of lysosomal storage bodies in the lens.…”