NANOSNET

Hi Dear All，

I have posted this case in listserv, but since we move to this platform, I post it again to get more suggestions. 

More than 10 years ago (27 years old), he had a rupture injury of the right eyeball and underwent scleral suture surgery. He remembered that after the surgery the visual acuity of both eyes was normal.

In 2018 (30 years old), keratoconus of both eyes was diagnosed and at that time the corrected visual acuity of the right eye was normal and the left eye was abnormal (not recorded). At that time, the ophthalmologist told him he had optic atrophy too.

He has not noticed any rapid vision loss and feels the vision loss is gradual and insidious. He noticed decreased vision in both eyes, which has worsened in the past six months.

He smokes 20 cigarettes a day and drinks occasionally. He is an electrician. His development, speech, and walking were all normal when he was a child.

He has five siblings from the same parents, and his elder sister also has keratoconus. In addition, the son of his mother's sister (from the same mother but a different father) also has keratoconus, but no one else in the family has definite optic nerve atrophy. His parents and his mother's parents all died due to other reasons.

The refraction of the right eye is -12.5 DS -6 DC, with a corrected visual acuity of 0.2. The visual acuity of the left eye is LP. Left RAPD. The center of the cornea of the left eye is opaque. Clear lens. The optic discs are pale white, worse in the left eye. RNFL 44 µm OD, 58 µm OS. GCIPL 51µm OD, not well-segmented OS. MRI shows a hyper T2 signal in the intraorbital segment of the left optic nerve, but there is no enhancement.

CBC, metabolic panel, renal, and hepatic function were normal. Syphilis was negative. 

Whole exome gene testing revealed a mutation in PRICKLE3 related to LHON (X-linked dominant), but since his mother has passed away, no one else has optic atrophy in the family. There is no way to verify it.

 No definite gene for keratoconus has been found. Currently, besides the mutation in PRICKLE3, there are several gene variations detected: ITGB3, DNAH7, LAMA5, SRCAP (related to Floating-harbor syndrome), ITPR2, NSD1, LMBR1, CFTR, ZNF644, FRAS1, SMC5, DNAH17.

 Does anyone have any thoughts or ideas about this patient?  Thank you very much!

Hi Dear All，

I have posted this case in listserv, but since we move to this platform, I post it again to get more suggestions. 

More than 10 years ago (27 years old), he had a rupture injury of the right eyeball and underwent scleral suture surgery. He remembered that after the surgery the visual acuity of both eyes was normal.

In 2018 (30 years old), keratoconus of both eyes was diagnosed and at that time the corrected visual acuity of the right eye was normal and the left eye was abnormal (not recorded). At that time, the ophthalmologist told him he had optic atrophy too.

He has not noticed any rapid vision loss and feels the vision loss is gradual and insidious. He noticed decreased vision in both eyes, which has worsened in the past six months.

He smokes 20 cigarettes a day and drinks occasionally. He is an electrician. His development, speech, and walking were all normal when he was a child.

He has five siblings from the same parents, and his elder sister also has keratoconus. In addition, the son of his mother's sister (from the same mother but a different father) also has keratoconus, but no one else in the family has definite optic nerve atrophy. His parents and his mother's parents all died due to other reasons.

The refraction of the right eye is -12.5 DS -6 DC, with a corrected visual acuity of 0.2. The visual acuity of the left eye is LP. Left RAPD. The center of the cornea of the left eye is opaque. Clear lens. The optic discs are pale white, worse in the left eye. RNFL 44 µm OD, 58 µm OS. GCIPL 51µm OD, not well-segmented OS. MRI shows a hyper T2 signal in the intraorbital segment of the left optic nerve, but there is no enhancement.

CBC, metabolic panel, renal, and hepatic function were normal. Syphilis was negative. 

Whole exome gene testing revealed a mutation in PRICKLE3 related to LHON (X-linked dominant), but since his mother has passed away, no one else has optic atrophy in the family. There is no way to verify it.

 No definite gene for keratoconus has been found. Currently, besides the mutation in PRICKLE3, there are several gene variations detected: ITGB3, DNAH7, LAMA5, SRCAP (related to Floating-harbor syndrome), ITPR2, NSD1, LMBR1, CFTR, ZNF644, FRAS1, SMC5, DNAH17.

 Does anyone have any thoughts or ideas about this patient?  Thank you very much!

Hi Dear All，

I have posted this case in listserv, but since we move to this platform, I post it again to get more suggestions. 

More than 10 years ago (27 years old), he had a rupture injury of the right eyeball and underwent scleral suture surgery. He remembered that after the surgery the visual acuity of both eyes was normal.

In 2018 (30 years old), keratoconus of both eyes was diagnosed and at that time the corrected visual acuity of the right eye was normal and the left eye was abnormal (not recorded). At that time, the ophthalmologist told him he had optic atrophy too.

He has not noticed any rapid vision loss and feels the vision loss is gradual and insidious. He noticed decreased vision in both eyes, which has worsened in the past six months.

He smokes 20 cigarettes a day and drinks occasionally. He is an electrician. His development, speech, and walking were all normal when he was a child.

He has five siblings from the same parents, and his elder sister also has keratoconus. In addition, the son of his mother's sister (from the same mother but a different father) also has keratoconus, but no one else in the family has definite optic nerve atrophy. His parents and his mother's parents all died due to other reasons.

The refraction of the right eye is -12.5 DS -6 DC, with a corrected visual acuity of 0.2. The visual acuity of the left eye is LP. Left RAPD. The center of the cornea of the left eye is opaque. Clear lens. The optic discs are pale white, worse in the left eye. RNFL 44 µm OD, 58 µm OS. GCIPL 51µm OD, not well-segmented OS. MRI shows a hyper T2 signal in the intraorbital segment of the left optic nerve, but there is no enhancement.

CBC, metabolic panel, renal, and hepatic function were normal. Syphilis was negative. 

Whole exome gene testing revealed a mutation in PRICKLE3 related to LHON (X-linked dominant), but since his mother has passed away, no one else has optic atrophy in the family. There is no way to verify it.

 No definite gene for keratoconus has been found. Currently, besides the mutation in PRICKLE3, there are several gene variations detected: ITGB3, DNAH7, LAMA5, SRCAP (related to Floating-harbor syndrome), ITPR2, NSD1, LMBR1, CFTR, ZNF644, FRAS1, SMC5, DNAH17.

 Does anyone have any thoughts or ideas about this patient?  Thank you very much!

Hi Dear All，

I have posted this case in listserv, but since we move to this platform, I post it again to get more suggestions. 

More than 10 years ago (27 years old), he had a rupture injury of the right eyeball and underwent scleral suture surgery. He remembered that after the surgery the visual acuity of both eyes was normal.

In 2018 (30 years old), keratoconus of both eyes was diagnosed and at that time the corrected visual acuity of the right eye was normal and the left eye was abnormal (not recorded). At that time, the ophthalmologist told him he had optic atrophy too.

He has not noticed any rapid vision loss and feels the vision loss is gradual and insidious. He noticed decreased vision in both eyes, which has worsened in the past six months.

He smokes 20 cigarettes a day and drinks occasionally. He is an electrician. His development, speech, and walking were all normal when he was a child.

He has five siblings from the same parents, and his elder sister also has keratoconus. In addition, the son of his mother's sister (from the same mother but a different father) also has keratoconus, but no one else in the family has definite optic nerve atrophy. His parents and his mother's parents all died due to other reasons.

The refraction of the right eye is -12.5 DS -6 DC, with a corrected visual acuity of 0.2. The visual acuity of the left eye is LP. Left RAPD. The center of the cornea of the left eye is opaque. Clear lens. The optic discs are pale white, worse in the left eye. RNFL 44 µm OD, 58 µm OS. GCIPL 51µm OD, not well-segmented OS. MRI shows a hyper T2 signal in the intraorbital segment of the left optic nerve, but there is no enhancement.

CBC, metabolic panel, renal, and hepatic function were normal. Syphilis was negative. 

Whole exome gene testing revealed a mutation in PRICKLE3 related to LHON (X-linked dominant), but since his mother has passed away, no one else has optic atrophy in the family. There is no way to verify it.

 No definite gene for keratoconus has been found. Currently, besides the mutation in PRICKLE3, there are several gene variations detected: ITGB3, DNAH7, LAMA5, SRCAP (related to Floating-harbor syndrome), ITPR2, NSD1, LMBR1, CFTR, ZNF644, FRAS1, SMC5, DNAH17.

 Does anyone have any thoughts or ideas about this patient?  Thank you very much!